(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018238.3 in the AGK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032079.1, covering AGK transcript NM_018238.3.
(upstream sequence)
. . . . . g.5051
atccgagccggttcccgcccccggcccgaactggcccgcgcgcgctcgcag c.-121
. . . . . . g.5111
ccccgcggcggaacccgagggcggcggcagcggtttcccttgaacgagccggggaatctg c.-61
. . . . . | 02 . g.9189
gagggagcacacaggaaaggcagagccgcgagctggaccagccgtg | caaatctctagaag c.-1
. . . . . . g.9249
ATGACGGTGTTCTTTAAAACGCTTCGAAATCACTGGAAGAAAACTACAGCTGGGCTCTGC c.60
M T V F F K T L R N H W K K T T A G L C p.20
. . . . | 03 . . g.46887
CTGCTGACCTGGGGAGGCCATTGGCTCTATGGAAAACACTG | TGATAACCTCCTAAGGAGA c.120
L L T W G G H W L Y G K H C | D N L L R R p.40
. . | 04 . . . . g.50323
GCAGCCTGTCAAGAAGCTCAG | GTGTTTGGCAATCAACTCATTCCTCCCAATGCACAAGTG c.180
A A C Q E A Q | V F G N Q L I P P N A Q V p.60
. . . . | 05 . . g.54946
AAGAAGGCCACTGTTTTTCTCAATCCTGCAGCTTGCAAAGG | AAAAGCCAGGACTCTATTT c.240
K K A T V F L N P A A C K G | K A R T L F p.80
. . . . . | 06. g.64920
GAAAAAAATGCTGCCCCGATTTTACATTTATCTGGCATGGATGTGACTATTGTTAAG | ACA c.300
E K N A A P I L H L S G M D V T I V K | T p.100
. . . . . . g.64980
GATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATT c.360
D Y E G Q A K K L L E L M E N T D V I I p.120
. . . | 07 . . . g.67898
GTTGCAGGAGGAGATGGGACACTGCAGGAG | GTTGTTACTGGTGTTCTTCGACGAACAGAT c.420
V A G G D G T L Q E | V V T G V L R R T D p.140
| 08 . . . . . . g.69250
GAG | GCTACCTTCAGTAAGATTCCCATTGGATTTATCCCACTGGGAGAGACCAGTAGTTTG c.480
E | A T F S K I P I G F I P L G E T S S L p.160
. . . | 09 . . g.75476
AGTCATACCCTCTTTGCCGAAAGTGGAAACAAAGTCCA | ACATATTACTGATGCCACACTT c.540
S H T L F A E S G N K V Q | H I T D A T L p.180
. . . . | 10 . g.87635
GCCATTGTGAAAGGAGAGACAGTTCCACTTGATGTCTTGCAGATCAAG | GGTGAAAAGGAA c.600
A I V K G E T V P L D V L Q I K | G E K E p.200
. . . . . . g.87695
CAGCCTGTATTTGCAATGACCGGCCTTCGATGGGGATCTTTCAGAGATGCTGGCGTCAAA c.660
Q P V F A M T G L R W G S F R D A G V K p.220
| 11 . . . . . g.90734
GTTAGCAA | GTACTGGTATCTTGGGCCTCTAAAAATCAAAGCAGCCCACTTTTTCAGCACT c.720
V S K | Y W Y L G P L K I K A A H F F S T p.240
| 12 . . . . . . g.95024
CTTAAG | GAGTGGCCTCAGACTCATCAAGCCTCTATCTCATACACGGGACCTACAGAGAGA c.780
L K | E W P Q T H Q A S I S Y T G P T E R p.260
. . . . . . g.95084
CCTCCCAATGAACCAGAGGAGACCCCTGTACAAAGGCCTTCTTTGTACAGGAGAATATTA c.840
P P N E P E E T P V Q R P S L Y R R I L p.280
. . . | 13. . . g.95556
CGAAGGCTTGCGTCCTACTGGGCACAACCACAGGATG | CCCTTTCCCAAGAGGTGAGCCCG c.900
R R L A S Y W A Q P Q D A | L S Q E V S P p.300
. . . . . . g.95616
GAGGTCTGGAAAGATGTGCAGCTGTCCACCATTGAACTGTCCATCACAACACGGAATAAT c.960
E V W K D V Q L S T I E L S I T T R N N p.320
. | 14 . . . . . g.103030
CAGCTTGACCCGACA | AGCAAAGAAGATTTTCTGAATATCTGCATTGAACCTGACACCATC c.1020
Q L D P T | S K E D F L N I C I E P D T I p.340
. . | 15 . . . . g.105281
AGCAAAGGAGACTTTATAACTATAGG | AAGTCGAAAGGTGAGAAACCCCAAGCTGCACGTG c.1080
S K G D F I T I G | S R K V R N P K L H V p.360
. . . . . | 16 . g.106518
GAGGGCACGGAGTGTCTCCAAGCCAGCCAGTGCACTTTGCTTATCCCGGAG | GGAGCAGGG c.1140
E G T E C L Q A S Q C T L L I P E | G A G p.380
. . . . . . g.106578
GGCTCTTTTAGCATTGACAGTGAGGAGTATGAAGCGATGCCTGTGGAGGTGAAACTGCTC c.1200
G S F S I D S E E Y E A M P V E V K L L p.400
. . . . . . g.106638
CCCAGGAAGCTGCAGTTCTTCTGTGATCCTAGGAAGAGAGAACAGATGCTCACAAGCCCC c.1260
P R K L Q F F C D P R K R E Q M L T S P p.420
g.106647
ACCCAGTGA c.1269
T Q X p.422
. . . . . . g.106707
gcagcagaagacaagcactctgagaccacactttaggccaccggtgggaccaaaagggaa c.*60
. . . . . . g.106767
caggtgcctcagccatcccaacagtgtcgtcagagggtccccagggcattttcatggcaa c.*120
. . . . . . g.106827
gtacccctctgcccccactccagcagtgcttcccaaagtgtgctctgtcacctgctttgc c.*180
. . . . . . g.106887
aatcggcttccattagcgcatgttttattttggtgtgacggttggccctcctaaacacgg c.*240
. . . . . . g.106947
actttcctcaggctggttcaagacggaaaaggactttcttctgttttcttccaaagtgca c.*300
. . . . . . g.107007
accacagtggagagcccacggtgggcttagcctgcctaggcccttccatttctcttcttt c.*360
. . . . . . g.107067
gaccgtgctaggaattccaggaaagtgcattcctgccctggtgaccttttcctatgtcta c.*420
. . . . . . g.107127
ggctcctccacaggtgctgctattttgtgagctccggctcctgtttagcttttatttcag c.*480
. . . . . . g.107187
ttctaacctcagtccagaaacatatgtgaggttgtttccctcttcagccacggctacaat c.*540
. . . . . . g.107247
accggaaaatgctagtttttatttatttttttaagtagtgcttcctaaatggtttgcatg c.*600
. . . . . . g.107307
agagccacctggggtacatgttgaaaacttatttggggtctaccccaaacctaataaccc c.*660
. . . . . . g.107367
aaatttggggatggggcccaggaatatgcatttttaaaaagtcatctgcccttcccaggt c.*720
. . . . . . g.107427
gattctgtaagttgtccctcaactgtacttggagaaatcgtgttttaaagcagtagtcca c.*780
. . . . . . g.107487
caaagtattctgctcatgtgcccccaaaagtattttgaaaaatcatgtataccctcaccc c.*840
. . . . . . g.107547
atctaagttgatatctaaaattttatctaagttggtatctaaaatttttcatgggaagtt c.*900
. . . . . . g.107607
aaatagttgacaaagtatgtatttgctggtgtcgtgtaaatattggtattttaaaataaa c.*960
. . . . . . g.107667
aactgttacatcactattttaaacatatccagtacaatttaaatatcacaacaatttgac c.*1020
. . . . . . g.107727
acccttcattcatttataaaaataaatgagctagttctttagtagttaaacatttcaaat c.*1080
. . . . . . g.107787
tggcttttctccttctgtatttccataccacttttcagccaagaatcctatcataatgta c.*1140
. . . . . . g.107847
atctattatgcccgacatcttttaatcattcaccccattacttcttgtcaacaaaaaata c.*1200
. . . . . . g.107907
taaatggaaattttttttttagctcttgctttaagtgtttgtttgttatctcagtccaga c.*1260
. . . . . . g.107967
accaatattatcgtaattaattattggtatataatgaaaacggtattaattcttggatga c.*1320
. . . . . . g.108027
ttaaaagtttttttattagaatgttctttatcctaattagttcatttatccaagaataca c.*1380
. . . . . . g.108087
tgaatgtgatttacagctgagatggggttcaacctcagctgtattccttgtttctgtata c.*1440
. . . . g.108132
gatgtaagcacataaattcgatggaatagaattacgttaacaatg c.*1485
(downstream sequence)
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