(used for variant description)
(last modified October 30, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_006395.2 in the ATG7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering ATG7 transcript NM_006395.2.
(upstream sequence)
. . . . . g.5057
ctttgcgcacgcgcgccgcttcccagtggcaagcgcgggcaggaccgcgttgcgtca c.-61
. . . . . | 02 g.31160
tcggggcgcgcgcctcagagagagctgtggttgccggaagttgagcggcg | gcaagaaata c.-1
. . . . . . g.31220
ATGGCGGCAGCTACGGGGGATCCTGGACTCTCTAAACTGCAGTTTGCCCCTTTTAGTAGT c.60
M A A A T G D P G L S K L Q F A P F S S p.20
. . . . . . g.31280
GCCTTGGATGTTGGGTTTTGGCATGAGTTGACCCAGAAGAAGCTGAACGAGTATCGGCTG c.120
A L D V G F W H E L T Q K K L N E Y R L p.40
. . . . | 03 . . g.31846
GATGAAGCTCCCAAGGACATTAAGGGTTATTACTACAATG | GTGACTCTGCTGGGCTGCCA c.180
D E A P K D I K G Y Y Y N G | D S A G L P p.60
. . . | 04 . . . g.39432
GCTCGCTTAACATTGGAGTTCAGTGCTTTTGACAT | GAGTGCTCCCACCCCAGCCCGTTGC c.240
A R L T L E F S A F D M | S A P T P A R C p.80
. . . . . . g.39492
TGCCCAGCTATTGGAACACTGTATAACACCAACACACTCGAGTCTTTCAAGACTGCAGAT c.300
C P A I G T L Y N T N T L E S F K T A D p.100
. . . | 05 . . . g.41475
AAGAAGCTCCTTTTGGAACAAGCAGCAAATGAG | ATATGGGAATCCATAAAATCAGGCACT c.360
K K L L L E Q A A N E | I W E S I K S G T p.120
. . . . . | 06 . g.45777
GCTCTTGAAAACCCTGTACTCCTCAACAAGTTCCTCCTCTTGACATTTGCA | GATCTAAAG c.420
A L E N P V L L N K F L L L T F A | D L K p.140
. . . . . . g.45837
AAGTACCACTTCTACTATTGGTTTTGCTATCCTGCCCTCTGTCTTCCAGAGAGTTTACCT c.480
K Y H F Y Y W F C Y P A L C L P E S L P p.160
. . . . | 07 . g.47820
CTCATTCAGGGGCCAGTGGGTTTGGATCAAAGGTTTTCACTAAAACAG | ATTGAAGCACTA c.540
L I Q G P V G L D Q R F S L K Q | I E A L p.180
. . . . . . g.47880
GAGTGTGCATATGATAATCTTTGTCAAACAGAAGGAGTCACAGCTCTTCCTTACTTCTTA c.600
E C A Y D N L C Q T E G V T A L P Y F L p.200
. . . . . . g.47940
ATCAAGTATGATGAGAACATGGTGCTGGTTTCCTTGCTTAAACACTACAGTGATTTCTTC c.660
I K Y D E N M V L V S L L K H Y S D F F p.220
. | 08 . . . . g.63846
CAAGGTCAAAGGACGAAG | ATAACAATTGGTGTATATGATCCCTGTAACTTAGCCCAGTAC c.720
Q G Q R T K | I T I G V Y D P C N L A Q Y p.240
. . . . | 09. . g.65449
CCTGGATGGCCTTTGAGGAATTTTTTGGTCCTAGCAGCCCACAGATG | GAGTAGCAGTTTC c.780
P G W P L R N F L V L A A H R W | S S S F p.260
. . . . . . g.65509
CAGTCTGTTGAAGTTGTTTGCTTCCGTGACCGTACCATGCAGGGGGCGAGAGACGTTGCC c.840
Q S V E V V C F R D R T M Q G A R D V A p.280
. . . . | 10 . g.73120
CACAGCATCATCTTCGAAGTGAAGCTTCCAGAAATGGCATTTAGCCCAG | ATTGTCCTAAA c.900
H S I I F E V K L P E M A F S P D | C P K p.300
. . . . . . g.73180
GCAGTTGGATGGGAAAAGAACCAGAAAGGAGGCATGGGACCAAGGATGGTGAACCTCAGT c.960
A V G W E K N Q K G G M G P R M V N L S p.320
. . | 11 . . . . g.74639
GAATGTATGGACCCTAAAAG | GTTAGCTGAGTCATCAGTGGATCTAAATCTCAAACTGATG c.1020
E C M D P K R | L A E S S V D L N L K L M p.340
. . . . . . g.74699
TGTTGGAGATTGGTTCCTACTTTAGACTTGGACAAGGTTGTGTCTGTCAAATGTCTGCTG c.1080
C W R L V P T L D L D K V V S V K C L L p.360
. . . . | 12 . . g.80356
CTTGGAGCCGGCACCTTGGGTTGCAATGTAGCTAGGACGTTGATG | GGTTGGGGCGTGAGA c.1140
L G A G T L G C N V A R T L M | G W G V R p.380
. . . . . . g.80416
CACATCACATTTGTGGACAATGCCAAGATCTCCTACTCCAATCCTGTGAGGCAGCCTCTC c.1200
H I T F V D N A K I S Y S N P V R Q P L p.400
. . . . . . g.80476
TATGAGTTTGAAGATTGCCTAGGGGGTGGTAAGCCCAAGGCTCTGGCAGCAGCGGACCGG c.1260
Y E F E D C L G G G K P K A L A A A D R p.420
. . | 13 . . . . g.90918
CTCCAGAAAATATTCCCCGGTGTG | AATGCCAGAGGATTCAACATGAGCATACCTATGCCT c.1320
L Q K I F P G V | N A R G F N M S I P M P p.440
. . . . . . g.90978
GGGCATCCAGTGAACTTCTCCAGTGTCACTCTGGAGCAAGCCCGCAGAGATGTGGAGCAA c.1380
G H P V N F S S V T L E Q A R R D V E Q p.460
. . . . . . g.91038
CTGGAGCAGCTCATCGAAAGCCATGATGTCGTCTTCCTATTGATGGACACCAGGGAGAGC c.1440
L E Q L I E S H D V V F L L M D T R E S p.480
. . . | 14 . . g.93066
CGGTGGCTTCCTGCCGTCATTGCTGCAAGCAAGAGAAAG | CTGGTCATCAATGCTGCTTTG c.1500
R W L P A V I A A S K R K | L V I N A A L p.500
. . . . . . g.93126
GGATTTGACACATTTGTTGTCATGAGACATGGTCTGAAGAAACCAAAGCAGCAAGGAGCT c.1560
G F D T F V V M R H G L K K P K Q Q G A p.520
. . . . . . g.93186
GGGGACTTGTGTCCAAACCACCCTGTGGCATCTGCTGACCTCCTGGGCTCATCGCTTTTT c.1620
G D L C P N H P V A S A D L L G S S L F p.540
. . . . . . g.93246
GCCAACATCCCTGGTTACAAGCTTGGCTGCTACTTCTGCAATGATGTGGTGGCCCCAGGA c.1680
A N I P G Y K L G C Y F C N D V V A P G p.560
| 15 . . . . . . g.95334
GAT | TCAACCAGAGACCGGACCTTGGACCAGCAGTGCACTGTGAGTCGTCCAGGACTGGCC c.1740
D | S T R D R T L D Q Q C T V S R P G L A p.580
. . . . . | 16 g.97124
GTGATTGCAGGAGCCCTGGCCGTGGAATTGATGGTATCTGTTTTGCAGCATCCAGAAGG | G c.1800
V I A G A L A V E L M V S V L Q H P E G | p.600
. . . . . . g.97184
GGCTATGCCATTGCCAGCAGCAGTGACGATCGGATGAATGAGCCTCCAACCTCTCTTGGG c.1860
G Y A I A S S S D D R M N E P P T S L G p.620
. | 17 . . . . . g.112481
CTTGTGCCTCACCAG | ATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGC c.1920
L V P H Q | I R G F L S R F D N V L P V S p.640
. . . | 18 . . . g.159292
CTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAA | GTTCTTGATCAATATGAACGAGAA c.1980
L A F D K C T A C S S K | V L D Q Y E R E p.660
. . . . . . g.159352
GGATTTAACTTCCTAGCCAAGGTGTTTAATTCTTCACATTCCTTCTTAGAAGACTTGACT c.2040
G F N F L A K V F N S S H S F L E D L T p.680
. . . | 19 . . g.287296
GGTCTTACATTGCTGCATCAAGAAACCCAAGCTGCTGAG | ATCTGGGACATGAGCGATGAT c.2100
G L T L L H Q E T Q A A E | I W D M S D D p.700
. g.287308
GAGACCATCTGA c.2112
E T I X p.703
. . . . . . g.287368
gatggccccgctgtggggctgacttctccccggccgcctgctgaggagctctccatcgcc c.*60
. . . . . . g.287428
agagcaggactgctgaccccaggcctggtgattctgggcccctcctccataccccgaggt c.*120
. . . . . . g.287488
ctgggattcccccctctgctgcccaggagtggccagtgttcggcgttgctcgggattcaa c.*180
. . . . . . g.287548
gataccaccagttcagagctaaataataaccttggccttggccttgctattgacctggga c.*240
. . . . . . g.287608
cttggtcctccatgcagtttttatttcttgtcacagtgactgatagccatcccccaggat c.*300
. . . . . . g.287668
cctttccccttggccctgagggggtgacccaacacagaccaaatggggaaatgagcaacc c.*360
. . . . . . g.287728
agctcctgcccagagccactgcgggaggtggcaccctcatccccggaatgtgctgcccac c.*420
. . . . . . g.287788
cgcaccgcaggctcctcctgtgggggccctgggcatgggtgagggtgggaccccgtgagc c.*480
. . . . . . g.287848
gcactgcaccctggccctggtggagcgggaggaggaggagagccgagctgggtacgagac c.*540
. . . . . . g.287908
taaagggcccacatgacccagtgacgccagatttccaccaaggactgagtgagctgctca c.*600
. . . . . . g.287968
gacatggctttctgcctcccagcctgtcctccactgtgggcatagcatctgtgcctgcct c.*660
. . . . . . g.288028
gcctgcttgagggagaggagtttctgctgctgccttgagctggggggaagagcccagggg c.*720
. . . . . . g.288088
cagatcctggcagctgcctggatggggctcctccctgcccttatgagcaggccaggccca c.*780
. . . . . . g.288148
gaaaggccgagcctgggctgccttcctgccccagccgagggaggggtcagacggctctac c.*840
. . . . . . g.288208
catgggtaactcaggcaagagctggttttcctctttattctgggtgtgtgcagctgtgag c.*900
. . . . . . g.288268
gccccaacccaggagaggccatggcctaggtacctgtgaccaccctgcccccgtgtagag c.*960
. . . . . . g.288328
ggcatcgtctttcctgctattttattctttcagcttttgtcttaggcccagaatcaaagt c.*1020
. . . . . . g.288388
gaaaattgagtcgagctgacccttacaacagtaggatttagtagggtagatttcaaatga c.*1080
. . . . . . g.288448
ggcttcgcttctcccaaagtagccagtccaagttccagtggctgtcgttcagctcatggg c.*1140
. . . . . . g.288508
agcttcatggggacacagccggcacaggtgcagggcccgagtccgcccacccagcctggc c.*1200
. . . . . . g.288568
gctgaaactgcacacgtacactatgtggtttaagagcactttattattgttcttaaggct c.*1260
. . . . . . g.288628
acttttaagtacaaaaaaagatggcctgccaaacctttttttttcttcttccaggaaaaa c.*1320
. . . . . . g.288688
caggccacagagaatggtatattacagatttacacacatgaagagaaggtcagagcgcac c.*1380
. . . . . . g.288748
tgcaggcagcgcggctctgggaagaacttcacggagccccttcttagagcagggaggggg c.*1440
. . . . . . g.288808
ctttctcagtgaaatgtttggttttctgctgcctcctctgccccaggcccccctccaggg c.*1500
. . . . . . g.288868
tactgcctatcccagataggtcagtgcaccagggacccggccgccagcaccgccgacccc c.*1560
. . . . . . g.288928
tcccagagtgacgcccttgttcactgacaaagagacctgtcccaggagtgtcctccaccg c.*1620
. . . . . . g.288988
agccggtcagctgtgggtggttttcctgttacgacgctcagtagcctgtagcaataacaa c.*1680
. . . . . . g.289048
actcgtggctatgaatgcagatgcagtgttctcatagaataactgttcctgcacttttac c.*1740
. . . . . . g.289108
agacaaatctacgacaaaaaaaaagatcaactttttttttccgaacaacaaaaaaaatga c.*1800
. . . . . . g.289168
atgattacaataggaaagggaaaaattaaatagctacatatcattaacaaattaatgttc c.*1860
. . . . . . g.289228
ttcaaaaaatacctacaaatttctctgtacattctttacgcacagcgtaacgatggtctc c.*1920
. . . . . . g.289288
aaaatcacccatatagaaaagtgttctcaacgatttttcctacagaaaatataggggcct c.*1980
. . . . . . g.289348
gaatgccaaagcttggaagcccagtacagtgggagtgaaatgtgtgcggggcaaggagaa c.*2040
. . . . . . g.289408
gggcttttctttcctccacttttcaaaggcctgcagccactctgtgactacaagagccag c.*2100
. . . . . . g.289468
tcctccgaccttttcacccagtgccaatttccaaaattcaacagctaaaaactgtaaaac c.*2160
. . . . . . g.289528
cgggggtcatacggtgtgcagagtccacaaagccttgcaggtgaggtgaccacgcccacg c.*2220
. . . . . . g.289588
tcacctggtcaggtgccatcgtcgtgagcctctggtgggccaggtgggacacagcacacc c.*2280
. . . . . . g.289648
ccagggggaggggatagaaacgctcattgaccaaaaaggagcagctgtgacctccacagc c.*2340
. . . . . . g.289708
tgtgtctgtcatgcttgcttcatctaatttctagttagtagctattaatatagcaaataa c.*2400
. . . . . . g.289768
taaatgcagtaataacagtataaagtcagaggaatgtatactgccttggccccagcgtac c.*2460
. . . . . . g.289828
gaggaagcgtataaaacaccatatcacagattgtctgtcagtaatctgctgttcagccaa c.*2520
. . . . . . g.289888
gagagttcaaagggagcagtttctgcatgtagggaagttggaagacacaaaccccacctc c.*2580
. . . . . . g.289948
ccctgggagcttgtaacaaagcagacagggatgcaaaaataaatgatgtcagcctgcagc c.*2640
. . . . . . g.290008
caaactccagcatcccacaccgcagctgacccactgctcatcgcgagggcctgccaggag c.*2700
. . . . . . g.290068
ctggcctcccgcactacttgtgagtaaagtgaatatcaaataccaatcttagagtacaac c.*2760
. . . . . . g.290128
tgtaccagcagtaagtatatctaggactgtaactgacaaaaataaactaattctgaaaag c.*2820
g.290130
aa c.*2822
(downstream sequence)
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