(used for variant description)
(last modified February 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001017975.3 in the HFM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering HFM1 transcript NM_001017975.3.
(upstream sequence)
. . . g.5039
agccaggcttggcggtcctcagaggggctgataaatcgg c.-61
. . . . | 02 . . g.8787
cgctcgactggcctaggagctgtccgcagggag | atttatgacaaagtccagttttcaaca c.-1
. . . . . . g.8847
ATGCTGAAATCAAATGATTGCCTGTTTTCTTTGGAAAATTTGTTTTTTGAAAAACCAGAT c.60
M L K S N D C L F S L E N L F F E K P D p.20
. | 03 . . . . . g.13513
GAAGTTGAAAA | CCATCCAGACAATGAAAAGTCATTGGATTGGTTTCTCCCTCCTGCTCCA c.120
E V E N | H P D N E K S L D W F L P P A P p.40
. . . . . . g.13573
TTGATTTCAGAAATTCCAGATACTCAGGAGTTAGAGGAAGAATTAGAAAGTCATAAACTG c.180
L I S E I P D T Q E L E E E L E S H K L p.60
| 04 . . . . . . g.15523
TTAG | GTCAGGAAAAGAGGCCAAAAATGTTAACATCAAATTTAAAGATAACTAATGAAGAT c.240
L G | Q E K R P K M L T S N L K I T N E D p.80
. . . . . . g.15583
ACAAATTATATTTCACTAACACAAAAATTCCAGTTTGCCTTTCCTTCTGATAAATATGAA c.300
T N Y I S L T Q K F Q F A F P S D K Y E p.100
. . . . . . g.15643
CAGGATGATCTAAATTTAGAAGGGGTAGGTAATAATGACTTATCACATATTGCTGGCAAG c.360
Q D D L N L E G V G N N D L S H I A G K p.120
. . . . . . g.15703
CTGACATATGCTTCTCAGAAATATAAAAATCACATTGGCACTGAGATAGCACCTGAGAAG c.420
L T Y A S Q K Y K N H I G T E I A P E K p.140
. . . . . . g.15763
AGTGTTCCTGATGATACAAAATTAGTTAATTTTGCAGAAGATAAAGGAGAGAGCACATCA c.480
S V P D D T K L V N F A E D K G E S T S p.160
. | 05 . . . . . g.24081
GTATTCCGGAAAAG | ATTATTTAAAATATCTGACAATATACATGGGAGTGCTTATTCTAAT c.540
V F R K R | L F K I S D N I H G S A Y S N p.180
. . . . . . g.24141
GACAATGAATTGGACTCTCACATTGGCTCAGTGAAAATTGTACAAACAGAAATGAACAAA c.600
D N E L D S H I G S V K I V Q T E M N K p.200
. . . . . . g.24201
GGGAAATCAAGGAACTATAGCAATAGTAAGCAAAAATTTCAGTATTCTGCAAATGTGTTT c.660
G K S R N Y S N S K Q K F Q Y S A N V F p.220
. . . . . . g.24261
ACAGCAAATAATGCTTTTTCTGCTTCTGAAATCGGAGAAGGCATGTTCAAAGCACCATCT c.720
T A N N A F S A S E I G E G M F K A P S p.240
. . . | 06 . . . g.24661
TTTTCAGTTGCTTTCCAACCTCATGATATTCAAG | AGGTAACAGAAAATGGTTTAGGTTCC c.780
F S V A F Q P H D I Q E | V T E N G L G S p.260
. . | 07 . . . . g.28925
TTGAAGGCTGTCACAGAAATTC | CGGCAAAATTTAGAAGTATTTTCAAAGAATTTCCATAT c.840
L K A V T E I P | A K F R S I F K E F P Y p.280
. . . | 08 . . . g.29660
TTCAACTATATACAGTCCAAGGCCTTTGATGAT | CTTCTTTACACAGATAGGAATTTTGTG c.900
F N Y I Q S K A F D D | L L Y T D R N F V p.300
. . . . . . g.29720
ATTTGTGCTCCAACTGGTTCTGGAAAAACTGTAGTGTTTGAACTAGCTATAACAAGATTG c.960
I C A P T G S G K T V V F E L A I T R L p.320
. . . . | 09 . . g.30669
TTAATGGAAGTACCATTGCCATGGTTGAATATTAAAATTGTTTACA | TGGCACCAATAAAA c.1020
L M E V P L P W L N I K I V Y M | A P I K p.340
. . . . . . g.30729
GCCTTGTGCAGTCAGCGTTTTGATGACTGGAAAGAAAAATTTGGACCAATAGGATTGAAT c.1080
A L C S Q R F D D W K E K F G P I G L N p.360
. . . . . . g.30789
TGTAAAGAACTTACTGGAGATACAGTAATGGATGATCTATTTGAGATTCAGCATGCCCAT c.1140
C K E L T G D T V M D D L F E I Q H A H p.380
. | 10 . . . . g.31431
ATTATTATGACAACTCCA | GAAAAATGGGATAGCATGACTAGGAAATGGAGAGACAACTCT c.1200
I I M T T P | E K W D S M T R K W R D N S p.400
. . . | 11 . . . g.31710
TTGGTTCAGCTGGTTCGACTGTTTCTCATTGATGAG | GTACATATTGTAAAAGATGAAAAT c.1260
L V Q L V R L F L I D E | V H I V K D E N p.420
. . . . . . g.31770
CGTGGTCCAACTCTTGAAGTTGTAGTTAGCAGAATGAAAACTGTACAGTCTGTTTCTCAG c.1320
R G P T L E V V V S R M K T V Q S V S Q p.440
. . . . . . g.31830
ACTTTAAAAAATACCAGCACTGCTATTCCAATGCGATTTGTAGCTGTATCTGCAACAATT c.1380
T L K N T S T A I P M R F V A V S A T I p.460
. | 12 . . . . . g.34187
CCAAATGCTGAGGAT | ATTGCAGAATGGCTTTCAGATGGTGAAAGACCAGCTGTGTGTCTG c.1440
P N A E D | I A E W L S D G E R P A V C L p.480
. . . . . . g.34247
AAAATGGATGAGAGCCATAGACCAGTGAAACTTCAGAAAGTGGTCCTTGGATTTCCCTGC c.1500
K M D E S H R P V K L Q K V V L G F P C p.500
. . . . . . g.34307
AGTAGTAACCAAACTGAGTTTAAGTTTGATTTAACCCTCAACTACAAAATTGCCAGTGTT c.1560
S S N Q T E F K F D L T L N Y K I A S V p.520
. . . | 13 . . . g.34447
ATACAAATGTACTCTGATCAGAAACCCACACTTGTG | TTTTGTGCAACAAGGAAGGGTGTG c.1620
I Q M Y S D Q K P T L V | F C A T R K G V p.540
. . . . . . g.34507
CAACAGGCTGCTTCTGTTCTTGTGAAAGATGCTAAATTTATTATGACTGTGGAACAGAAA c.1680
Q Q A A S V L V K D A K F I M T V E Q K p.560
| 14 . . . . | 15 . g.56728
CAGAG | GTTACAGAAGTATGCATATTCCGTAAGAGATTCAAAACTGAGAG | ATATCTTAAAA c.1740
Q R | L Q K Y A Y S V R D S K L R D | I L K p.580
. . . . . . g.56788
GATGGTGCTGCTTATCATCATGCTGGTATGGAGCTGTCAGATAGAAAAGTAGTTGAGGGA c.1800
D G A A Y H H A G M E L S D R K V V E G p.600
. . . | 16 . . . g.57247
GCTTTTACTGTTGGAGATTTACCAGTTCTTT | TTACTACCAGTACTTTAGCTATGGGAGTA c.1860
A F T V G D L P V L F | T T S T L A M G V p.620
. . . . . . g.57307
AATTTGCCTGCTCACCTAGTAGTTATAAAATCTACAATGCATTATGCTGGAGGACTGTTT c.1920
N L P A H L V V I K S T M H Y A G G L F p.640
. . . . . | 17. g.58229
GAAGAGTACAGTGAAACAGATATTCTACAGATGATTGGTAGAGCTGGTCGACCTCAA | TTT c.1980
E E Y S E T D I L Q M I G R A G R P Q | F p.660
. . . . . . g.58289
GACACTACAGCTACTGCAGTTATCATGACTCGATTAAGCACAAGGGACAAGTACATTCAG c.2040
D T T A T A V I M T R L S T R D K Y I Q p.680
. . . | 18 . . . g.59026
ATGTTAGCTTGTAGAGACACTGTAGAAAGCAG | TTTGCACAGACATCTTATTGAACATTTA c.2100
M L A C R D T V E S S | L H R H L I E H L p.700
. . . . . . g.59086
AATGCAGAGATAGTACTGCATACCATCACGGATGTGAATATTGCTGTGGAATGGATACGA c.2160
N A E I V L H T I T D V N I A V E W I R p.720
. . . . | 19 . . g.62407
TCAACTCTGCTTTATATCAGAGCCTTGAAAAATCCATCTCATTATG | GTTTTGCATCTGGA c.2220
S T L L Y I R A L K N P S H Y G | F A S G p.740
. . . | 20 . . . g.66385
TTGAACAAAGATGGAATTGAAGCAAAATTACAAG | AATTATGTTTGAAGAATCTGAATGAT c.2280
L N K D G I E A K L Q E | L C L K N L N D p.760
. . . . . | 21 . g.85108
TTATCATCCCTGGACTTAATAAAGATGGATGAAGGTGTTAATTTCAAACCAACTG | AAGCA c.2340
L S S L D L I K M D E G V N F K P T E | A p.780
. . . . . . g.85168
GGAAGATTGATGGCTTGGTATTATATTACATTTGAGACAGTGAAGAAATTTTATACAATC c.2400
G R L M A W Y Y I T F E T V K K F Y T I p.800
. . | 22. . . . g.86703
AGTGGAAAAGAAACCTTATCAGATCTG | GTTACATTGATAGCTGGCTGCAAGGAATTTCTA c.2460
S G K E T L S D L | V T L I A G C K E F L p.820
. . . . . . g.86763
GATATACAGTTAAGGATAAATGAAAAGAAAACACTGAATACTTTGAACAAAGATCCAAAT c.2520
D I Q L R I N E K K T L N T L N K D P N p.840
. | 23 . . . . . g.86918
CGGATAACTATCAG | ATTTCCAATGGAAGGAAGAATTAAAACAAGAGAAATGAAAGTAAAT c.2580
R I T I R | F P M E G R I K T R E M K V N p.860
| 24 . . . . . . g.90537
TG | TCTTATTCAGGCTCAACTAGGATGCATTCCCATACAAGATTTTGCTTTGACACAAGAT c.2640
C | L I Q A Q L G C I P I Q D F A L T Q D p.880
. . . . | 25 . . g.90680
ACCGCAAAGATTTTCAGACATGGCTCCCGAATTACAAGAT | GGTTGTCAGATTTTGTAGCT c.2700
T A K I F R H G S R I T R W | L S D F V A p.900
. . . . . . g.90740
GCTCAAGAAAAGAAGTTTGCTGTACTATTGAATAGTTTGATTTTAGCTAAATGTTTTAGG c.2760
A Q E K K F A V L L N S L I L A K C F R p.920
. . . . . | 26 . g.93401
TGTAAACTTTGGGAAAACTCTCTGCATGTATCCAAACAACTGGAAAAAATTG | GTATAACA c.2820
C K L W E N S L H V S K Q L E K I G | I T p.940
. . . . . . g.93461
TTGTCAAATGCAATCGTAAATGCTGGTTTGACTTCCTTTAAAAAAATAGAAGAGACAGAT c.2880
L S N A I V N A G L T S F K K I E E T D p.960
. | 27 . . . . g.93727
GCAAGGGAACTTGAATTG | ATTTTAAACAGACATCCCCCCTTTGGAACCCAGATAAAAGAA c.2940
A R E L E L | I L N R H P P F G T Q I K E p.980
. . . . | 28 . . g.93915
ACTGTGATGTATCTACCAAAATATGAACTTAAAGTGGAACAG | ATTACAAGATATAGTGAT c.3000
T V M Y L P K Y E L K V E Q | I T R Y S D p.1000
. . . . . . g.93975
ACGACGGCAGAAATATTAGTGACTGTTATATTAAGAAATTTTGAACAGCTACAAACTAAA c.3060
T T A E I L V T V I L R N F E Q L Q T K p.1020
. . . . . . g.94035
AGAACAGCATCGGATTCTCACTATGTTACCTTAATCATAGGTGACGCAGATAATCAAGTA c.3120
R T A S D S H Y V T L I I G D A D N Q V p.1040
. . | 29 . . . . g.95849
GTTTATCTGCACAAGATTAC | GGATTCTGTTTTGCTAAAAGCTGGAAGTTGGGCTAAAAAG c.3180
V Y L H K I T | D S V L L K A G S W A K K p.1060
. . . . . . g.95909
ATTGCTGTGAAAAGAGCTCTTAAATCTGAAGATCTTAGCATAAATCTAATAAGTTCTGAA c.3240
I A V K R A L K S E D L S I N L I S S E p.1080
| 30 . . . . . . g.96430
TTTG | TTGGGCTTGATATTCAGCAGAAACTTACAGTCTTTTACTTAGAACCCAAGAGGTTT c.3300
F V | G L D I Q Q K L T V F Y L E P K R F p.1100
. . . . . . g.96490
GGAAATCAAATCACTATGCAAAGAAAATCTGAAACACAGATTTCCCATTCTAAACATTCA c.3360
G N Q I T M Q R K S E T Q I S H S K H S p.1120
. . . | 31 . . . g.132836
GACATATCTACAATAGCAGGACCTAATAAAG | GAACGACTGCCAGCAAAAAACCTGGGAAC c.3420
D I S T I A G P N K G | T T A S K K P G N p.1140
. . . . . | 32 . g.133134
CGAGAATGCAATCATCTTTGTAAAAGTAAACATACATGTGGACATGACTGCT | GTAAAATT c.3480
R E C N H L C K S K H T C G H D C C | K I p.1160
. . . . . . g.133194
GGAGTTGCACAGAAGTCAGAAATTAAAGAGTCAACAATTTCTTCATATTTATCTGATTTA c.3540
G V A Q K S E I K E S T I S S Y L S D L p.1180
. . . . | 33 . g.135072
AGAAACAGGAATGCTGTTTCATCTGTTCCTCCAGTTAAACGTCTGAAG | ATACAGATGAAT c.3600
R N R N A V S S V P P V K R L K | I Q M N p.1200
. . . . . . g.135132
AAATCTCAAAGTGTGGACCTTAAAGAGTTTGGTTTTACTCCAAAACCTTCCCTTCCTAGT c.3660
K S Q S V D L K E F G F T P K P S L P S p.1220
| 34 . . . . . g.136106
ATATCAAG | GTCAGAATATTTAAACATATCTGAATTGCCTATAATGGAGCAGTGGGATCAG c.3720
I S R | S E Y L N I S E L P I M E Q W D Q p.1240
. . . . . | 35 . g.142022
CCTGAAATCTATGGAAAAGTTAGACAAGAACCATCTGAATATCAAGACAAAG | AAGTTTTG c.3780
P E I Y G K V R Q E P S E Y Q D K E | V L p.1260
. . . . . . g.142082
AATGTGAACTTTGAATTGGGAAATGAAGTTTGGGATGATTTTGATGATGAAAACTTAGAA c.3840
N V N F E L G N E V W D D F D D E N L E p.1280
. . . . | 36 . . g.143779
GTTACTAGCTTTTCAACTGATACTGAGAAGACAAAAATATCAG | GATTTGGAAACACTTTG c.3900
V T S F S T D T E K T K I S G | F G N T L p.1300
. . . . . . g.143839
AGTTCAAGTACCAGGGGAAGTAAGCTACCCCTTCAAGAGTCAAAGAGCAAATTCCAAAGA c.3960
S S S T R G S K L P L Q E S K S K F Q R p.1320
. | 37 . . . . . g.147323
GAAATGTCAAACAG | TTTTGTTTCATCACATGAGATGTCGGATATTTCTTTATCAAATTCT c.4020
E M S N S | F V S S H E M S D I S L S N S p.1340
. . . . . . g.147383
GCTATGCCCAAGTTCAGTGCATCCTCCATGACAAAATTACCTCAACAAGCCGGAAATGCA c.4080
A M P K F S A S S M T K L P Q Q A G N A p.1360
| 38 . . . . . . g.147531
GTTATT | GTCCATTTTCAAGAAAGAAAACCACAAAATCTGTCACCAGAGATTGAGAAGCAA c.4140
V I | V H F Q E R K P Q N L S P E I E K Q p.1380
. . . . . . g.147591
TGCTTTACTTTCTCTGAAAAAAACCCAAATTCTTCAAATTATAAAAAAGTGGATTTTTTT c.4200
C F T F S E K N P N S S N Y K K V D F F p.1400
. . . | 39 . . g.148532
ATTAGAAACAGTGAATGTAAAAAGGAAGTTGATTTCAG | TATGTATCATCCTGATGATGAA c.4260
I R N S E C K K E V D F S | M Y H P D D E p.1420
. . . . g.148580
GCTGATGAAATGAAGTCTTTATTGGGAATATTTGATGGTATTTTCTAA c.4308
A D E M K S L L G I F D G I F X p.1435
. . . . . . g.148640
aacaaacaaatactttttatattgataagagaaagaataaagacacctaatcacaaagca c.*60
. . . . . . g.148700
tgctttttatttttaaaaagtagttcataattgttcggatttttttctcctgtatttgat c.*120
. . . . . . g.148760
tagctttgttcactttttgcaacaaaatgtatgggccgatttattttcccattatattgt c.*180
. . . . . . g.148820
aacttcttgaaaagctcttttacagtggctttgtttcaataagcccttaagttaagggct c.*240
. . . . . . g.148880
gattgcacttagaaataagttgcacttagaaataattatttggctattaattggattttg c.*300
. . . . . . g.148940
acaagaaccaatgtaaaatttcatttttatattttcttaacaagaagaaaaatattctat c.*360
. . . . . . g.149000
gaaagcaaagtaatgctaacttaatgaatctgcttattgtatggattaatcactaatatt c.*420
. . . . . . g.149060
attcccatgtattttgttttactaaagatttttaagaatccagtggctatttgaacctac c.*480
. . . . g.149104
tgttatctaactttgagcaacaataaatgaaacattaatcagta c.*524
(downstream sequence)
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