(used for variant description)
(last modified August 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004273.4 in the CHST3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012635.1, covering CHST3 transcript NM_004273.4.
(upstream sequence)
. . g.5020
gacgccttggacgcggttca c.-421
. . . . . . g.5080
ggaatccgccgccgctagccggctcgggcctgagcggggagggcgccaggcaggacctct c.-361
. . . . . . g.5140
cgcaggctcgctgcgcaggacggcgcccgcctggcgccgcttcccttccagcgtgccgac c.-301
. . . . . . g.5200
cggccccgcagcgcctccatccctccggcccgccccggagaagacgcacagctcgggccg c.-241
. . . . . . g.5260
cgcgggcgccggggccgcggaaccgcttctgccgggatcttccaggaggaaagcgaagtt c.-181
. . . . . . g.5320
gcgagcggatgctgcccgcgccggaccccagccgcggagggtcggggccgccggtggagt c.-121
. . | 02 . . . . g.46421
ctcggcggccggg | gacaagggtgtcccccacctgaagacggcaagctgggtcctgagtga c.-61
. . . . . . g.46481
tgcccctcagctgagtgtccaaggctggcccgaggagcccccacggccccacctttcccc c.-1
. . . . . . g.46541
ATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATG c.60
M E K G L T L P Q D C R D F V H S L K M p.20
. . . . . . g.46601
AGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAG c.120
R S K Y A L F L V F V V I V F V F I E K p.40
. . | 03 . . . . g.47850
GAAAATAAAATCATATCAAG | GGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCA c.180
E N K I I S R | V S D K L K Q I P Q A L A p.60
. . . . . . g.47910
GATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTG c.240
D A N S T D P A L I L A E N A S L L S L p.80
. . . . . . g.47970
AGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAG c.300
S E L D S A F S Q L Q S R L R N L S L Q p.100
. . . . . . g.48030
CTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAG c.360
L G V E P A M E A A G E E E E E Q R K E p.120
. . . . . . g.48090
GAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACC c.420
E E P P R P A V A G P R R H V L L M A T p.140
. . . . . . g.48150
ACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTAC c.480
T R T G S S F V G E F F N Q Q G N I F Y p.160
. . . . . . g.48210
CTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAAC c.540
L F E P L W H I E R T V S F E P G G A N p.180
. . . . . . g.48270
GCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTG c.600
A A G S A L V Y R D V L K Q L F L C D L p.200
. . . . . . g.48330
TACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTC c.660
Y V L E H F I T P L P E D H L T Q F M F p.220
. . . . . . g.48390
CGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAG c.720
R R G S S R S L C E D P V C T P F V K K p.240
. . . . . . g.48450
GTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCC c.780
V F E K Y H C K N R R C G P L N V T L A p.260
. . . . . . g.48510
GCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTG c.840
A E A C R R K E H M A L K A V R I R Q L p.280
. . . . . . g.48570
GAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTG c.900
E F L Q P L A E D P R L D L R V I Q L V p.300
. . . . . . g.48630
CGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACC c.960
R D P R A V L A S R M V A F A G K Y K T p.320
. . . . . . g.48690
TGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGG c.1020
W K K W L D D E G Q D G L R E E E V Q R p.340
. . . . . . g.48750
CTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCC c.1080
L R G N C E S I R L S A E L G L R Q P A p.360
. . . . . . g.48810
TGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAG c.1140
W L R G R Y M L V R Y E D V A R G P L Q p.380
. . . . . . g.48870
AAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGG c.1200
K A R E M Y R F A G I P L T P Q V E D W p.400
. . . . . . g.48930
ATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAAC c.1260
I Q K N T Q A A H D G S G I Y S T Q K N p.420
. . . . . . g.48990
TCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTG c.1320
S S E Q F E K W R F S M P F K L A Q V V p.440
. . . . . . g.49050
CAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCC c.1380
Q A A C G P A M R L F G Y K L A R D A A p.460
. . . . . . g.49110
GCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAG c.1440
A L T N R S V S L L E E R G T F W V T X p.479
. . . . . . g.49170
gggggccggggccccgtatgcccctcctcgtgaaaggcctgccccgtctttctgccgcag c.*60
. . . . . . g.49230
ccctcgcagagggcgggtgcacagcgccatgagcgggcagcgcctcctgtagcagtaggg c.*120
. . . . . . g.49290
cccccagccagcgctccagccaaagcggcggccccagggttaattgcggagaacaggaca c.*180
. . . . . . g.49350
gtgcccggtccccttgagggccatcacacccagacccaacgggttgcagcctcctgagca c.*240
. . . . . . g.49410
ggcctaggcaggcccgggcctgttggcaagcttcgatctcacacacacagaaacatacat c.*300
. . . . . . g.49470
tcgtgcctggagaccctgcaggccagagtccaaatatttaacaatcagaaggggcaaggc c.*360
. . . . . . g.49530
tctgaccagtgacagtcagacctcctgctttatttggtgttaaccgtttcttgtctggat c.*420
. . . . . . g.49590
ggtgaagtctggaatctgggtgggtccttggaggaggggctaggacagccgtgggtgtca c.*480
. . . . . . g.49650
aaggtggcatttgaggctcgtttgaggtgacagtggctgtttaccaactagtacagagcg c.*540
. . . . . . g.49710
attcagcgttttcatgaatgggttggctgtgctggttactgatgaatatgggccccttat c.*600
. . . . . . g.49770
agagctgcaaaacacacacatgcgtatagacatacatacatgtacaccatacatagacaa c.*660
. . . . . . g.49830
gcatcataaaggcacaagtgcacacacatctatgcagacaagcttcctcgctgcttatgc c.*720
. . . . . . g.49890
ccacagggtttttctgtatgacacacctcagaggagcctgtgcttaacatttgtaggatt c.*780
. . . . . . g.49950
atttcgagggcagggcaggggaaagaaacgcgttaaagggccatgacatgacacagttcc c.*840
. . . . . . g.50010
ctggccgggtttggactgaacagtggattcagaactgcagcgttcaaagcccctgcccgc c.*900
. . . . . . g.50070
cttagattctcatggctacctcctctgacccatccacatccttgcggctggcaggcagga c.*960
. . . . . . g.50130
tgttttgaaatggtgcagccaaaggccccgtctagcttggctggctcccgaacatgtcca c.*1020
. . . . . . g.50190
tatttgaaggctgcctcaggcctggcaggcagaagcagctgtggtccctggaggcaaaag c.*1080
. . . . . . g.50250
gcagctcacggggccttccatttccagccaggcctcatctggggtagggccaagaggaaa c.*1140
. . . . . . g.50310
gtacagagtgcccgtgggggagaagtcccaccaggatgccccccctcccctgagaagccc c.*1200
. . . . . . g.50370
gccttctccctcgtggacaggagtcagccagttggttgctgtggttacagccagtgcctg c.*1260
. . . . . . g.50430
gaattcctccttagggccctgggaagagtattgcttaacgcaggatgtgctgggtgtttt c.*1320
. . . . . . g.50490
gtttcgggcttttatttatggcttggtgtctttcttgtttcatggctgtgtttttgcttt c.*1380
. . . . . . g.50550
tgtttctgtaggagcgcctcttccaagcagtggaggcctgagggcttgagggaggctggg c.*1440
. . . . . . g.50610
gaaaaccagcagggagcacttggctcctggcagagggagaggacaggaggaggagccttc c.*1500
. . . . . . g.50670
cccaggaggaacgaggagaggtggccacgtggcaggccacagtgccctatgggcttttct c.*1560
. . . . . . g.50730
gtttgaaccccatgtgggatgaatctcaaagccaccagcgttcttgcctagtgtccagag c.*1620
. . . . . . g.50790
cagcagagatttgcagccctcgcccctccctgagaagaagctggatttgaaaatccctca c.*1680
. . . . . . g.50850
caggccctaacatgtttcctgggtgggcaggggcctcatgacaagcgacaagtgtaccca c.*1740
. . . . . . g.50910
gagtagaaggccttccccactcccacctcaaacccaggagcagaactcagtatccagagc c.*1800
. . . . . . g.50970
ttacaaggagctgcaagggtttgccgagggctgcccagctctgcttctggtttcctggac c.*1860
. . . . . . g.51030
aatttctctgtcagatacggcccattgtaaacccagagggctgcattttgggttgagtaa c.*1920
. . . . . . g.51090
tatggacaccatggaagtacaggatctgagtccaacattgccatgggggagggaagagtg c.*1980
. . . . . . g.51150
tgtcctggcaggaagccaccattggagaaggtgaggccagtaaccatctcatgggattcg c.*2040
. . . . . . g.51210
ctataatcagcctatttgagctgctgggtctctgtcactgtggactccagtcattcaagg c.*2100
. . . . . . g.51270
aggtctccactcttgggttttttttattttcttttcttttgctattttgcctgaacaccc c.*2160
. . . . . . g.51330
caacactcttggttttagagtccaagagtaagttgtgcagagacatggttctaatttgga c.*2220
. . . . . . g.51390
gttcaaaggaacaccagctctgaaaacatgaccgtggggccaggatgtttctggcaggcc c.*2280
. . . . . . g.51450
cagaagtgctggccgttcttccccagcctccccactgctccctcctctgttccccatgtg c.*2340
. . . . . . g.51510
gaggtcggaggggctgggactggggagggggcagccacctccatccaaggctcttcctag c.*2400
. . . . . . g.51570
gggccctgctaatgtggacagtagactttatccctccttcttactctgggccaagacctc c.*2460
. . . . . . g.51630
ccactccgccctctgaggatggtaccaagaatgggcctttgggacttctcaggacattga c.*2520
. . . . . . g.51690
caatgtgcacactgcaggttgacttaatttatttattttttgaaaagaagagacagaaaa c.*2580
. . . . . . g.51750
taccttattatctgcagggactcaaagctgtacccaaatcaagaaagacaaaataacaat c.*2640
. . . . . . g.51810
agaaaccattcacacactccgttcatgcatggacaccagaagacgattcagaacacaaga c.*2700
. . . . . . g.51870
ggagaatgagctggagcgccagcaccacgatggccccaggacgttgtttaagatctgaga c.*2760
. . . . . . g.51930
tcccttggtttctctcttgttgatctgagatgctacatcagggcccttgctgctgtatta c.*2820
. . . . . . g.51990
cctctgcccgggtgtttgagacaggtcacaagcgcgtggatgtttcctggaagtgtattc c.*2880
. . . . . . g.52050
ccctggggctcagcgatgctctgggaacccttggggtttggggaaggacagtgtggtgtg c.*2940
. . . . . . g.52110
actattggcttgaaacgttatggatatggttggagtcacccatgtggatatgattttcag c.*3000
. . . . . . g.52170
cttggagctgggatggagaagatggaagcactggtggccgggcctctttttccagcgagg c.*3060
. . . . . . g.52230
ccagccctggcttctcctctgttccagcttgtctgccagaagccttcccctgcaaggtgc c.*3120
. . . . . . g.52290
ccacctgcccggagacagagggagcagctgaggcctctctccactggccgccagcctccc c.*3180
. . . . . . g.52350
tagcacaaggggaccattcagcaatgagtgtttactcatgttctttcttgttgatgagtt c.*3240
. . . . . . g.52410
ctgcggcccagcatatagaaatggctcagaacgttccaggccttggtgagacacagcagc c.*3300
. . . . . . g.52470
gtccaatgctcacaggctgtccccactctgcctgttcccatcttcccctcgggacctgtt c.*3360
. . . . . . g.52530
tataaattgaggaatggatgagggccctggagggtccttgggagtagttagtggagggca c.*3420
. . . . . . g.52590
ggattctcaggtccccatagagagggaaagagaagaccagatgtgcatagaagccagtct c.*3480
. . . . . . g.52650
ctgtcacatacaccgcaggtggtcaccgagttattttccaaaagctgaggaacataaagc c.*3540
. . . . . . g.52710
aaatttaggcttttgtccttctgcaatacatgcacttgaaaataaacagaaaagagatgt c.*3600
. . . . . . g.52770
ttaataacaagtttacttccggtctgctagcaccctcagcctgggagctactgccagagg c.*3660
. . . . . . g.52830
ctggcgtagtggggcagctgctgaccaaaccccacagaacagagggcaccaggcatcaca c.*3720
. . . . . . g.52890
cgacatctttccctcccatctctgccatctgtctgtctggcaatggaaggagcttcagca c.*3780
. . . . . . g.52950
ggaggtccttcccagaaggttgattcttggcctgggtggtagaggagatatcctgaccct c.*3840
. . . . . . g.53010
aaagtcttccagccccgggtcatcctctcctatactagggcctattgaccgtagaggcca c.*3900
. . . . . . g.53070
ggtgcggtggctcatacctgtaatcccagcagttggggaggccaaggtgggaggattgct c.*3960
. . . . . . g.53130
tgagcccaagagttggagaccagcctgggcaacatggtgagaccaattgactgtagggct c.*4020
. . . . . . g.53190
tgtcccttgctaagacaggagcagaagactggatggctgtgtcctcaaggcagtcccctc c.*4080
. . . . . . g.53250
ccatccccattcccaaagtcagaaagtgaagccagatctcaagggctgatacctgaggca c.*4140
. . . . . . g.53310
aggagagctaaggggagagaaattggggctgagtggaagcagatgcctgcacaagccaag c.*4200
. . . . . . g.53370
tgtgtcttattgatctgtacaagctgatagaaggaccatctgctgaaatccagggctcct c.*4260
. . . . . . g.53430
gagttggtgggtttgcttgtgaagcttctaggacaaggcgcagccagatggaagggagag c.*4320
. . . . . . g.53490
ggtccagggcttcctaaatgcagccgcatcacctgtcaactcgctgcagtttcagagaca c.*4380
. . . . . . g.53550
gtggaagctgctctttacctcaaaagcacaaagcagaattggcaacttcacttgtctcaa c.*4440
. . . . . . g.53610
gagctccaagatcctttggtctcgtgtcctttggcaccccgtaactggactggggacaaa c.*4500
. . . . . . g.53670
tttgttacgtgtttccaaggctacagacatggcgccatcctcacaggcctagctcatgtc c.*4560
. . . . . . g.53730
atggatcaggtgctttgctggggggatacaatgacccatgtggtctgcgtcttctgccat c.*4620
. . . . . . g.53790
tggcttgaactgggcaccccctgaagtctccatctcagctgtatattctagtccaaattt c.*4680
. . . . . . g.53850
tcctggctcccctgctccctcccaggtcctgcacactgtctttttgccaacacctcagcc c.*4740
. . . . . . g.53910
ctgtttgctatttcatgtctgcatggtacgagacaccccttcacggcatacactgccatg c.*4800
. . . . . . g.53970
gtatgtacatatgcatccacgtgtgtgtatgtgtagcatgtagctcattctgctcagcct c.*4860
. . . . . . g.54030
ctggcgccgttccacattgctcccagccccattgctgtcactgtcgtcccagatgtcctt c.*4920
. . . . . . g.54090
gccatggccacagacaatctgccgtctcctggaaacgctggggctgcccttcagagagct c.*4980
. . . . . . g.54150
ggcagccccagcagtcagggcctgctttgcagaatagaatgtgaacccaactcctgatgg c.*5040
. . . . . g.54203
cctacttgacttatttaattaaagatgaaatcatgcaatgagcaaaacctgca c.*5093
(downstream sequence)
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