(used for variant description)
(last modified May 27, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001144.5 in the AMFR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering AMFR transcript NM_001144.5.
(upstream sequence)
. . . g.5031
ctcttccgcgccggcaggggcagcagcggga c.-181
. . . . . . g.5091
gcagcgcggggcggagcggcgccagcagccaggagcggcccggcccggcccggcgcggcg c.-121
. . . . . . g.5151
gcggcggcggcagcggcagcggcagcgacgccagagcccgtgggcgccgttcgcgaggcc c.-61
. . . . . . g.5211
gccgcagaggcccggccgcagcgcagggaagcctgggggccagaggtcgccgctgccgcc c.-1
. . . . . . g.5271
ATGCCGCTGCTCTTCCTCGAGCGCTTCCCCTGGCCCAGCCTCCGCACCTACACGGGCCTC c.60
M P L L F L E R F P W P S L R T Y T G L p.20
. . . . . . g.5331
AGCGGCCTGGCCCTGCTGGGCACCATCATCAGCGCCTACCGCGCGCTCAGCCAGCCCGAG c.120
S G L A L L G T I I S A Y R A L S Q P E p.40
. . . . . . g.5391
GCCGGCCCCGGCGAGCCGGACCAGCTAACGGCCTCGCTGCAGCCTGAGCCGCCGGCGCCC c.180
A G P G E P D Q L T A S L Q P E P P A P p.60
. . . . . . g.5451
GCCCGGCCGAGCGCCGGGGGACCCCGGGCCCGCGATGTGGCCCAGTACCTGCTCTCAGAC c.240
A R P S A G G P R A R D V A Q Y L L S D p.80
. | 02 . . . . . g.16239
AGCCTCTTCGTGTGG | GTTCTAGTAAATACCGCTTGCTGTGTTTTGATGTTGGTGGCTAAG c.300
S L F V W | V L V N T A C C V L M L V A K p.100
. . . . | 03 . g.20962
CTCATCCAGTGTATTGTGTTTGGCCCTCTTCGAGTGAGTGAGAGACAG | CATCTCAAAGAC c.360
L I Q C I V F G P L R V S E R Q | H L K D p.120
. . . . . . g.21022
AAATTTTGGAATTTTATTTTCTACAAGTTCATTTTCATCTTTGGTGTGCTGAATGTCCAG c.420
K F W N F I F Y K F I F I F G V L N V Q p.140
. . . . . . g.21082
ACAGTGGAAGAGGTGGTCATGTGGTGCCTCTGGTTTGCCGGACTTGTCTTTCTGCACCTG c.480
T V E E V V M W C L W F A G L V F L H L p.160
. . . | 04 . . . g.22449
ATGGTTCAGCTCTGCAAGGATCGATTTGAATAT | CTTTCCTTCTCGCCCACCACGCCGATG c.540
M V Q L C K D R F E Y | L S F S P T T P M p.180
. . . . . . g.22509
AGCAGCCACGGTCGAGTCCTGTCCCTGTTGGTTGCCATGCTGCTTTCCTGCTGTGGACTG c.600
S S H G R V L S L L V A M L L S C C G L p.200
. . . . . . g.22569
GCGGCCGTCTGCTCCATCACCGGCTACACCCACGGAATGCACACCTTGGCTTTCATGGCT c.660
A A V C S I T G Y T H G M H T L A F M A p.220
| 05 . . . . | 06. . g.25510
GCAGAG | TCTCTTCTTGTGACAGTGAGGACTGCTCATGTGATTTTACG | ATACGTAATTCAC c.720
A E | S L L V T V R T A H V I L R | Y V I H p.240
. . . . . . g.25570
CTCTGGGACCTCAACCACGAAGGGACGTGGGAAGGAAAGGGGACGTATGTCTATTACACA c.780
L W D L N H E G T W E G K G T Y V Y Y T p.260
. . . . . . g.25630
GACTTTGTCATGGAGCTCACTCTCCTGTCCCTGGACCTCATGCACCATATTCACATGTTG c.840
D F V M E L T L L S L D L M H H I H M L p.280
| 07 . . . . . . g.27480
| TTATTTGGCAACATCTGGTTATCCATGGCCAGCCTGGTCATCTTTATGCAGCTGCGTTAC c.900
| L F G N I W L S M A S L V I F M Q L R Y p.300
. . . . . . g.27540
CTGTTTCATGAGGTGCAACGTCGAATTCGTCGGCACAAGAACTATCTACGTGTGGTTGGA c.960
L F H E V Q R R I R R H K N Y L R V V G p.320
. | 08 . . . . . g.28741
AACATGGAGGCCAG | GTTTGCAGTTGCAACTCCAGAGGAGCTGGCTGTCAACAATGACGAC c.1020
N M E A R | F A V A T P E E L A V N N D D p.340
. . . . . . g.28801
TGTGCCATCTGTTGGGACTCCATGCAGGCTGCGCGGAAACTGCCCTGTGGACATCTTTTC c.1080
C A I C W D S M Q A A R K L P C G H L F p.360
| 09 . . . . . . g.41218
CACAA | CTCCTGTCTTCGTTCCTGGCTAGAACAAGACACCTCCTGTCCAACATGCAGAATG c.1140
H N | S C L R S W L E Q D T S C P T C R M p.380
. . . . . . g.41278
TCTCTTAATATTGCCGACAATAATCGTGTCAGGGAAGAACATCAAGGAGAGAACTTGGAT c.1200
S L N I A D N N R V R E E H Q G E N L D p.400
. . . . . . g.41338
GAGAATTTGGTTCCTGTAGCAGCAGCCGAAGGGAGACCTCGCTTAAACCAACACAATCAC c.1260
E N L V P V A A A E G R P R L N Q H N H p.420
. | 10 . . . . . g.44560
TTCTTCCATTTCGATG | GGTCTCGGATTGCGAGCTGGCTGCCGAGTTTTTCGGTTGAAGTG c.1320
F F H F D G | S R I A S W L P S F S V E V p.440
. . . . . . g.44620
ATGCACACCACCAACATTCTTGGCATTACGCAGGCCAGCAACTCCCAGCTCAATGCAATG c.1380
M H T T N I L G I T Q A S N S Q L N A M p.460
| 11 . . . . . . g.61271
| GCTCATCAGATTCAAGAGATGTTTCCCCAGGTTCCATACCATCTGGTACTGCAGGACCTC c.1440
| A H Q I Q E M F P Q V P Y H L V L Q D L p.480
. . . . . . g.61331
CAGCTGACACGCTCAGTTGAAATAACAACAGACAATATTTTAGAAGGACGGATTCAAGTA c.1500
Q L T R S V E I T T D N I L E G R I Q V p.500
. | 12 . . . . . g.63056
CCTTTTCCTACACAG | CGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGG c.1560
P F P T Q | R S D S I R P A L N S P V E R p.520
. . . | 13 . . g.66454
CCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAG | ACCGAGCGTGTGCCACTGGAC c.1620
P S S D Q E E G E T S A Q | T E R V P L D p.540
. . . . . . g.66514
CTCAGTCCTCGCCTGGAGGAGACGCTGGACTTCGGCGAGGTGGAAGTGGAGCCCAGTGAG c.1680
L S P R L E E T L D F G E V E V E P S E p.560
. . . . . . g.66574
GTGGAAGACTTCGAGGCTCGTGGGAGCCGCTTCTCCAAGTCTGCTGATGAGAGACAGCGC c.1740
V E D F E A R G S R F S K S A D E R Q R p.580
. . . . | 14 . . g.67498
ATGCTGGTGCAGCGTAAGGACGAACTCCTCCAGCAAGCTCGCAA | ACGTTTCTTGAACAAA c.1800
M L V Q R K D E L L Q Q A R K | R F L N K p.600
. . . . . . g.67558
AGTTCTGAAGATGATGCGGCCTCAGAGAGCTTCCTCCCCTCGGAAGGTGCGTCCTCTGAC c.1860
S S E D D A A S E S F L P S E G A S S D p.620
. . . . . . g.67618
CCCGTGACCCTGCGTCGAAGGATGCTGGCTGCCGCCGCGGAACGGAGGCTTCAGAAGCAG c.1920
P V T L R R R M L A A A A E R R L Q K Q p.640
. g.67630
CAGACCTCCTAG c.1932
Q T S X p.643
. . . . . . g.67690
cgctcccttgccttcctcagctgcctcctgcgccctgtgcccgactgactggaggaggcc c.*60
. . . . . . g.67750
tgtcccaattctgcccgctccatggaaaagcgggcttgactgcattgccgctgtataaag c.*120
. . . . . . g.67810
catgtggtcttatagtgtttggacagctgataaatttaatccttctttgtaatactttct c.*180
. . . . . . g.67870
atgtgacatttctcttccccttagaaacactgcaaattttaactgtaggtatgatctctt c.*240
. . . . . . g.67930
ctggtgttgactggactgcttggggtgggggacgatcaggaggaagtgagcagtcgcctg c.*300
. . . . . . g.67990
cctgcagcaggcagcttctactcctgcctcatgcgtacgtcccacaaatgcaggtgtcct c.*360
. . . . . . g.68050
gagcaccacacccagtgggaagagtgtgggggaggcgcacagtgtgagcccgcccccacg c.*420
. . . . . . g.68110
tcgtggggtaacatctgttatcaaactgctgtcgttgttgtggaagcatgtagactgtgc c.*480
. . . . . . g.68170
cagaggccagacccacgggctcatgcacccctgagccagcagggcatcttggaaaaggaa c.*540
. . . . . . g.68230
ctcttggttcgatacctggagcagaggaggggaaagtccagggctatagggtgtgatgaa c.*600
. . . . . . g.68290
gtcacccctttctgtcccactacatctgggactgactttccgagcctccagtccaaagcc c.*660
. . . . . . g.68350
ggcttgatttccgtgaactctggtgctcctgcatctcatgagtgtgccccatgggtcccc c.*720
. . . . . . g.68410
tcccctctcagcatttccttgtcccgtctggacctggggagtggttaggcagcaagcttt c.*780
. . . . . . g.68470
ggtttatggttttcattcattggtgaagtaaattaggcagtgctaaagcctgtgggtttg c.*840
. . . . . . g.68530
gtccttgaacaagatgtgggccttgcaagatgggagagtaaaccttgaagggctttatta c.*900
. . . . . . g.68590
aagaaataaaaaagaacttttgtatcttttatcctgggagcactgcgttttcctagctgt c.*960
. . . . . . g.68650
gttattcctggtttaattcagcagagaaggtaaggtgtgaacctacctgccttggagagg c.*1020
. . . . . . g.68710
gcccaggtcccaaatctcttcaaattcttcacatgtttaactttaaggatttgaaccatg c.*1080
. . . . . . g.68770
aagtcataggttacagacctcagttttatgccccattggattactttttttttttttttt c.*1140
. . . . . . g.68830
tttttttttttttttactctttgaaagctttgttttgtggtagtccttttgggaagaatc c.*1200
. . . . . . g.68890
cagtattatccacaattattggcaaagtttaaatgtattttacataacggaaagttttta c.*1260
. . . . . . g.68950
gaatgttgaaaagtaattgaaaaaggtgataggtaaatttttaggcaaagataatttatt c.*1320
. . . . . . g.69010
tcaataaatctttcaaaagccttaccttgaaatgctgttagtaaatttctgtgatttttt c.*1380
. . . . . . g.69070
tttttaatttgttttgctgagagcatagctatttgtttttattgtaaaacaataataata c.*1440
. g.69087
ataaaaagcaaactcta c.*1457
(downstream sequence)
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