(used for variant description)
(last modified October 21, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001012515.2 in the FECH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008175.1, covering FECH transcript NM_001012515.2.
(upstream sequence)
. . . . . g.5057
aggtcagggggctggggacgcgcgtggggatcgctacccggctcggccactgctggg c.-61
. . . . . . g.5117
cggacacctgggcgcgccgccgcgggaggagcccggactcgggccgaggctgcccaggca c.-1
. . . . . . g.5177
ATGCGTTCACTCGGCGCAAACATGGCTGCGGCCCTGCGCGCCGCGGGCGTCCTGCTCCGC c.60
M R S L G A N M A A A L R A A G V L L R p.20
| 02. . . . . . g.11591
GATCCGC | TGGCATCCAGCAGCTGGAGGGTCTGTCAGCCATGGAGGTGGAAGTCAGGTGCA c.120
D P L | A S S S W R V C Q P W R W K S G A p.40
. . . . . . g.11651
GCTGCAGCGGCCGTCACCACAGAAACAGCCCAGCATGCCCAGGGTGCAAAACCTCAAGTT c.180
A A A A V T T E T A Q H A Q G A K P Q V p.60
. . . | 03 . . . g.18400
CAACCGCAGAAGAGGTATGAGTCTAACATCAG | GAAGCCGAAAACTGGAATATTAATGCTA c.240
Q P Q K R Y E S N I R | K P K T G I L M L p.80
. . . . . . g.18460
AACATGGGAGGCCCTGAAACTCTTGGAGATGTTCACGACTTCCTTCTGAGACTCTTCTTG c.300
N M G G P E T L G D V H D F L L R L F L p.100
. . . | 04 . . . g.20225
GACCGAGACCTCATGACACTTCCTATTCAGAA | TAAGCTGGCACCATTCATCGCCAAACGC c.360
D R D L M T L P I Q N | K L A P F I A K R p.120
. . . . . . g.20285
CGAACCCCCAAGATTCAAGAGCAGTACCGCAGGATTGGAGGCGGATCCCCCATCAAGATA c.420
R T P K I Q E Q Y R R I G G G S P I K I p.140
. . . . . . g.20345
TGGACTTCCAAGCAGGGAGAGGGCATGGTGAAGCTGCTGGATGAATTGTCCCCCAACACA c.480
W T S K Q G E G M V K L L D E L S P N T p.160
| 05 . . . . . . g.25215
G | CCCCTCACAAATACTATATTGGATTTCGGTACGTCCATCCTTTAACAGAAGAAGCAATT c.540
A | P H K Y Y I G F R Y V H P L T E E A I p.180
. . . . . . g.25275
GAAGAGATGGAGAGAGATGGCCTAGAAAGGGCTATTGCTTTCACACAGTATCCACAGTAC c.600
E E M E R D G L E R A I A F T Q Y P Q Y p.200
. | 06 . . . . . g.28801
AGCTGCTCCACCACAG | GCAGCAGCTTAAATGCCATTTACAGATACTATAATCAAGTGGGA c.660
S C S T T G | S S L N A I Y R Y Y N Q V G p.220
. . . . . . g.28861
CGGAAGCCCACGATGAAGTGGAGCACTATTGACAGGTGGCCCACACATCACCTCCTCATC c.720
R K P T M K W S T I D R W P T H H L L I p.240
| 07 . . . . . . g.32551
CAG | TGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGC c.780
Q | C F A D H I L K E L D H F P L E K R S p.260
. . . . | 08 . . g.36803
GAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCT | GTGGTCAACAGAGGCGAC c.840
E V V I L F S A H S L P M S | V V N R G D p.280
. . . . . . g.36863
CCATATCCTCAGGAGGTAAGCGCCACTGTCCAAAAAGTCATGGAAAGGCTGGAGTACTGC c.900
P Y P Q E V S A T V Q K V M E R L E Y C p.300
. . . | 09 . . . g.37343
AACCCCTACCGACTGGTGTGGCAATCCAAG | GTTGGTCCAATGCCCTGGTTGGGTCCTCAA c.960
N P Y R L V W Q S K | V G P M P W L G P Q p.320
. . . . . . g.37403
ACAGACGAATCTATCAAAGGGCTTTGTGAGAGGGGGAGGAAGAATATCCTCTTGGTTCCG c.1020
T D E S I K G L C E R G R K N I L L V P p.340
. . . . . . g.37463
ATAGCATTTACCAGTGACCATATTGAAACGCTGTATGAGCTGGACATCGAGTACTCTCAA c.1080
I A F T S D H I E T L Y E L D I E Y S Q p.360
. | 10 . . . . . g.40408
GTTTTAGCCAAGGAG | TGTGGAGTTGAAAACATCAGAAGAGCTGAGTCTCTTAATGGAAAT c.1140
V L A K E | C G V E N I R R A E S L N G N p.380
. | 11 . . . . . g.40936
CCATTGTTCTCTAAG | GCCCTGGCCGACTTGGTGCATTCACACATCCAGTCAAACGAGCTG c.1200
P L F S K | A L A D L V H S H I Q S N E L p.400
. . . . . . g.40996
TGTTCCAAGCAGCTGACCCTGAGCTGTCCGCTCTGTGTCAATCCTGTCTGCAGGGAGACT c.1260
C S K Q L T L S C P L C V N P V C R E T p.420
. . . g.41026
AAATCCTTCTTCACCAGCCAGCAGCTGTGA c.1290
K S F F T S Q Q L X p.429
. . . . . . g.41086
cccccgccggtggaccccgtggcgttaggcaaatgcccaacctccagatacctccgatgt c.*60
. . . . . . g.41146
ggagagggtgttatttagagatcaaggaaggaagtcatccttccttgatatatatacagc c.*120
. . . . . . g.41206
ctttgggtacaaattgtgtggtttcttgaggattggactcttgatggatttctattttta c.*180
. . . . . . g.41266
tataactatacagtaagcatttgtattttctctctctaggtataagttactagtttggaa c.*240
. . . . . . g.41326
tgtccatcaggacctttaataaatgagttaaaaatttgtcttatgagacacacctattta c.*300
. . . . . . g.41386
agtacagattttggctttattgcccaaaaccctcctgaaagggtacggagagtcccctct c.*360
. . . . . . g.41446
gtgggctggcagtgtgaatgagatctgtttagtctcgtgcatatagttgctgttttttaa c.*420
. . . . . . g.41506
atgaacacagttgagtatttgaagtgaatttgaaaaagaaatgttacttaatctttccct c.*480
. . . . . . g.41566
aagcccatgggttacagaatgctagggaggcaatttggttacctgcaatggctgcttttg c.*540
. . . . . . g.41626
ccagcgaggccaccattcattggtcatcttggtatttgtgtgtgaatctcactttcctca c.*600
. . . . . . g.41686
atgtaaaaaggaatcaagtatggatttcagaggtgctcttagattccccatacacccaag c.*660
. . . . . . g.41746
ggtaataaacgtgtacaagtacagtgttcatgatacgtgccttggtgggagtccgtggtg c.*720
. . . . . . g.41806
ccacagggaaggggctcccactgcttctggtctccagggacagtgctgctggaaaggcta c.*780
. . . . . . g.41866
gtgatgagcttcaccctggagctcctcccgggaccttgcaagcctctccatccagcatct c.*840
. . . . . . g.41926
tctctatcttagttgaatgccttctttctgaacatttgttttaagaattattttataaag c.*900
. . . . . . g.41986
tcaacaatactttgcttgaattctttcttaatttacgattttttattataaaaatgtata c.*960
. . . . . . g.42046
gtgatacaatgggacatgtgaagaatacagaaaagtaaccactttaatgcaataactgtt c.*1020
. . . . . . g.42106
atcataatattgtatttcgtggtagtcctttcctgtagatatttttaatgccatttaatg c.*1080
. . . . . . g.42166
ccattgtcaccttggatttatgagtgaaaagtgtttctaaaaatatagaaataatgtcag c.*1140
. . . . . . g.42226
atcagagtctgatcttctatgtttgtatttaaatggattaaaagatccccggtggttcca c.*1200
. . . . . . g.42286
tgaagaatttgtaaagatcactttctctttcctccaagccctgaaactttgttcttcaaa c.*1260
. . . . . . g.42346
agagcgtttctttttttttttttttttagccagtttataaagtggaagtattaggagatt c.*1320
. . . . . . g.42406
cataaatcttctatattgagaattggctatgttaataaatattacaacatcattaaggtt c.*1380
. . . . . . g.42466
ttagctaagtttgattcatgctgtctgttaaatcaaaactgatctaaatcagaattatta c.*1440
. . . . . . g.42526
aatgtgaggagcttttttaatacaggaaaagaaacatgtcatccacttgagttaatagtt c.*1500
. . . . . . g.42586
ttcctacgttgatgacagccctcatgagtagcatccacatttttaaaatttcaaattggt c.*1560
. . . . . . g.42646
ttttctactagtagattgtgtttctagagaaagatacaaggcataggtgattgtttagga c.*1620
. . . . . . g.42706
ttttcctctagcctttgccattacctttttggggatgaggttcacagtagactttgagtg c.*1680
. . . . . . g.42766
accgtcccaccgtgaagtgaattctctgagctggtggtgtggtgctggaaggaaggttat c.*1740
. . . . . . g.42826
ttttggagccactctctccccttaaggatatttcccaagggcctgcttcaattctttgat c.*1800
. . . . . . g.42886
gactttagaggtgaaaaaatatttttatggagatgatgcagaaaactccaattcaggagc c.*1860
. . . . . . g.42946
ccttgcgagtatatctgaagcacttatttgctaaggaaacctgaattgatagcagtactg c.*1920
. . . . . . g.43006
tgctgtctggaataatgtccttgatactgagttgggaccagactggcttttatagtgaca c.*1980
. . . . . . g.43066
ggcaaagaggaatttattgagatcactgctcatggcatttgttgctgtaagaagtgttgc c.*2040
. . . . . . g.43126
ctttgattgttactaaccacggatgggtaacggtcatacattaggctagtgtttggtagg c.*2100
. . . . . . g.43186
acaaaatctttttagagctttgagaattgtcatcctgttggtcaactttgaaatacaaat c.*2160
. . . . . . g.43246
gtttgccctggtaattagcaatgaactgctggcagtttcttcagctgtgtatatacggat c.*2220
. . . . . . g.43306
ctggcttttaattgatgaatcaacttctacagaaacttttgcagggacagtgttgatgag c.*2280
. . . . . . g.43366
gcagtttagcttgccagggtgatgataaagcccaggtccctgcatgtatagtgctcttct c.*2340
. . . . . . g.43426
aaagaatatgcattcttgaactacttaactttttaaaaatcacaataaatttttgcactc c.*2400
. . . . . . g.43486
aaaatttgcttcgtatcaggagaaatgaactcattgttttgttttgtttttttttttttt c.*2460
. . . . . . g.43546
taagatggagtcttgctatgtcacccaggctggagggcagtggtgcgatctcggctcact c.*2520
. . . . . . g.43606
gctacttccacctcctgggctcaagtgatcctcccacctcagcctccaagtagctgggac c.*2580
. . . . . . g.43666
tacaggagtgcttcaccacgctgggctacttttttatattttttgtagagatggggtttt c.*2640
. . . . . . g.43726
gccatgttgtccaggctggtcttgaactcctgggctcaagggattctcctgcctcagtct c.*2700
. . . . . . g.43786
cccaaagtgctgggattacaaggatgagcctctgcacctggccctgaactcattattaaa c.*2760
. . . . . . g.43846
agccctttaaatgtgaggctgggtgccgtgccttacatgtgtaattccaatactttggaa c.*2820
. . . . . . g.43906
ggccaaggttggaggattgcttgatcccaagagttcaagaccagcctgggcaacataggg c.*2880
. . . . . . g.43966
agaccctgactctacaaaaaataaagtaaaaattaactgggtgtagtgtcacatgcctgt c.*2940
. . . . . . g.44026
agttccagctacttaggaggctgaggtggtaggattgcttgagcccagcagtttgaggtt c.*3000
. . . . . . g.44086
gcagtgaggtgtgattgcaccactgcactccagcctgggtgacagaggaagaccctgtcc c.*3060
. . . . . . g.44146
caaaaccaaaaaaaagaaaagaaatacagagactgggtcatttacaaaggaaagaggttt c.*3120
. . . . . . g.44206
aattgactcggttcggctttctgaggaagccttaggaaattgacaatcatggcagaaggg c.*3180
. . . . . . g.44266
gaagcagatgtcttacatggcagtgagtgagagcaagcaaaggggaagagcccccttata c.*3240
. . . . . . g.44326
aaaccatcagatctcgtgagaactggctgtcacaagaacagcatgggggaactgtctcca c.*3300
. . . . . . g.44386
tgttccaatctccttccaccaggtccctccctcaacacgtggggattatggggattacaa c.*3360
. . . . . . g.44446
tttgaaatgagatttgggtggggaacagagccaaatcatatcattccaccctggcccctc c.*3420
. . . . . . g.44506
ccaaatcacatgtcctttttacatttcaaaaccaatcatgccttcacaacagtcctccag c.*3480
. . . . . . g.44566
agtcttaactcattccagcattaacccaaaagtccaagttcaaagtctcatccaagacaa c.*3540
. . . . . . g.44626
ggcaagtcccttctgcctgtgagcctgtaacattaaaagcaagttagtgacttccaagat c.*3600
. . . . . . g.44686
acaatgggagtacagacattggtaaatgttcccattccaaatgggagaaattggccaaaa c.*3660
. . . . . . g.44746
cacaggggctacaggccccatgcaccactgcactccactgtgcaagtctgaaacccggca c.*3720
. . . . . . g.44806
gggcactccttaaattttttttttttttttttgagatggagtctcgctctgttgcccaag c.*3780
. . . . . . g.44866
ctggagtacagtggcacgatctcggctcactgcaacctccgcctcttgggttcaaaggat c.*3840
. . . . . . g.44926
catcctgcctcagcctccggagtagctgggctactcaggcgtgtgccaccatgcccggct c.*3900
. . . . . . g.44986
aatttttgtatttttagtagagatggggcctgaccatgttggtcaggctggtctctaatt c.*3960
. . . . . . g.45046
cctgacctcgtgatccacccgcctcagcctctgaaagtgttgggattacaggcgtgagcc c.*4020
. . . . . . g.45106
accatccccggcctactcaataaatcttaaagttccggaataatctcctttgactccatg c.*4080
. . . . . . g.45166
tctcacctccaggtcacgctgatgcaagaggtgggctaatctttctagtaaattccatat c.*4140
. . . . . . g.45226
ttaattcaagaaaccataacttaaggcatgtaaaagagatcctttgctcaatgtgatgcc c.*4200
. . . . . . g.45286
attgtgcttatccaaagtatattattattacccacaaagggtgagagattaggctgcagc c.*4260
. . . . . . g.45346
cataccccaagtggagtgagcagcaagacctgccccctgctcagagtgtagatgactggg c.*4320
. . . . . . g.45406
ggcacctgcattcctaggggctctgccgtatgagctcctgtcgatgcggcaaaggaccac c.*4380
. . . . . . g.45466
cttgcccaacgacagcgggaaggcagaatttaaagctggcagctgtaagcgaacgtctat c.*4440
. . . . . . g.45526
gtgtgcgcacgggggcacgtgaaggcacaggtgcatcagccaagaacctccaattcacct c.*4500
. . . . . . g.45586
cttaaccttctcacctcacctgaaaccccttctgccagaatcctgaaggtggcccaggaa c.*4560
. . . . . . g.45646
cagggctcctaacgttaggtggaaatgggaaattcattgagatgtcacaagctggaataa c.*4620
. . . . . . g.45706
gaaaattctgagctcacccggaaactaatgccctaaattaagattattcagcttctcaat c.*4680
. . . . . . g.45766
ttttaatagcaaaatggagacctgagtgtggataacttttagtatctgtgggggatcctg c.*4740
. . . . . . g.45826
gaaccaattccctgccaatatagaaggacaactgtctacagtacttgaagtattattaac c.*4800
. . . . . . g.45886
tacattcgccatgctgtatgttagatccccagaacatatttatcctgcatatctaaaatt c.*4860
. . . . . . g.45946
ttgatcattttacaaactttctattttttttgtcaattttctccagctagacacttgtgc c.*4920
. . . . . . g.46006
aatacggctattatctgatctttgccttaaatgttgtgcttcttttccatatgcacgtat c.*4980
. . . . . . g.46066
tttgcaaaatataaagtgtgtagagctatatagcactcagccaagtggtgggtacctgca c.*5040
. . . . . . g.46126
ggtgcttcagagaagtaaattgatgctgctaatatttgttgaatggcacgaatatgatga c.*5100
. . . . . . g.46186
gcaatagcaggtggtgcccttcagccagaccatcgctccgtgcgtctgatgcatcttgcc c.*5160
. . . . . . g.46246
aaagagtagttctgggaggtggttgcctctagagaacacattcctcctattctggggtcc c.*5220
. . . . . . g.46306
cgtgagagaaagaaatgcttttgcttttgatgtgggactcttactaagcctttcttcaga c.*5280
. . . . . . g.46366
gaaaaggaagtgaaaaatgcaccccatgataatcagtttcttacaacatactgtgatagt c.*5340
. . . . . . g.46426
accggcttcgttgtttttagctggaatcattagcttccatttttagaataacagctattg c.*5400
. . . . . . g.46486
gctaaattaggctacagtaggccattaagatggatgttggaattaaaaacatttttggaa c.*5460
. . . . . . g.46546
aaaagcctgctttgagcctttgttataagcccttgggtagagatctgggtcctgtttctg c.*5520
. . . . . . g.46606
atttcttgtgagccttcactctgacagttttgtttccagaaacacactcttagcctgctc c.*5580
. . . . . . g.46666
ctgaaatgggaacagacaggccaacttcccctctccagtctcccctgcgggtcaaagctt c.*5640
. . . . . . g.46726
tactttcctgtcatgttaagaaagaatagatttaaccttgataatccatgtagtattctg c.*5700
. . . . . . g.46786
tatttttaccttttccttatctgaaaaaaagtgtatatatggcatggaattgattgcaca c.*5760
. . . . . . g.46846
ggcacatggcatgttggcttgtgaaccaattgttaaaatttcaagttaatcattaaaata c.*5820
. . . . . g.46897
atatctttcaaattaagttatattaaaaacaaaggtaacattctaaattca c.*5871
(downstream sequence)
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