Canonical Allele Identifier: CA2768291381

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545036_126545037insACCAAACACACCCAACA , CM000667.2:g.126545036_126545037insACCAAACACACCCAACA	GRCh38
NC_000005.9:g.125880728_125880729insACCAAACACACCCAACA , CM000667.1:g.125880728_125880729insACCAAACACACCCAACA	GRCh37
NC_000005.8:g.125908627_125908628insACCAAACACACCCAACA	NCBI36
NG_008600.2:g.55355_55356insGTTGGGTGTGTTTGGTT
NG_008600.3:g.55355_55356insGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-17_1566-16insGTTGGGTGTGTTTGGTT MANE Select	ENSP00000387123.3:n.1566-17_1566-16insGTTGGGTGTGTTTGGTT
ENST00000458249.6:c.*1475-17_*1475-16insGTTGGGTGTGTTTGGTT	ENSP00000403929.1:n.*1475-17_*1475-16insGTTGGGTGTGTTTGGTT
ENST00000485852.7:n.313-17_313-16insGTTGGGTGTGTTTGGTT
ENST00000497231.7:n.1993-17_1993-16insGTTGGGTGTGTTTGGTT
ENST00000635851.1:c.1563+1288_1563+1289insGTTGGGTGTGTTTGGTT
ENST00000636286.1:n.1331-17_1331-16insGTTGGGTGTGTTTGGTT
ENST00000636482.1:n.1100-17_1100-16insGTTGGGTGTGTTTGGTT
ENST00000636743.1:c.1446-17_1446-16insGTTGGGTGTGTTTGGTT	ENSP00000489725.1:n.1446-17_1446-16insGTTGGGTGTGTTTGGTT
ENST00000636808.1:c.*1375-17_*1375-16insGTTGGGTGTGTTTGGTT	ENSP00000490833.1:n.*1375-17_*1375-16insGTTGGGTGTGTTTGGTT
ENST00000636872.1:c.1726-17_1726-16insGTTGGGTGTGTTTGGTT	ENSP00000490919.1:n.1726-17_1726-16insGTTGGGTGTGTTTGGTT
ENST00000636879.1:c.1611-17_1611-16insGTTGGGTGTGTTTGGTT	ENSP00000490811.1:n.1611-17_1611-16insGTTGGGTGTGTTTGGTT
ENST00000636886.1:c.1365-17_1365-16insGTTGGGTGTGTTTGGTT	ENSP00000490371.1:n.1365-17_1365-16insGTTGGGTGTGTTTGGTT
ENST00000637206.1:c.1386-17_1386-16insGTTGGGTGTGTTTGGTT	ENSP00000489895.1:n.1386-17_1386-16insGTTGGGTGTGTTTGGTT
ENST00000637272.1:c.1557-17_1557-16insGTTGGGTGTGTTTGGTT	ENSP00000489686.1:n.1557-17_1557-16insGTTGGGTGTGTTTGGTT
ENST00000637292.1:c.1022-17_1022-16insGTTGGGTGTGTTTGGTT
ENST00000637782.1:c.1565+1288_1565+1289insGTTGGGTGTGTTTGGTT	ENSP00000490024.1:n.1565+1288_1565+1289insGTTGGGTGTGTTTGGTT
ENST00000638008.1:c.*1410-17_*1410-16insGTTGGGTGTGTTTGGTT	ENSP00000490400.1:n.*1410-17_*1410-16insGTTGGGTGTGTTTGGTT
ENST00000638010.1:n.1512-17_1512-16insGTTGGGTGTGTTTGGTT
ENST00000409134.7:c.1566-17_1566-16insGTTGGGTGTGTTTGGTT	ENSP00000387123.3:n.1566-17_1566-16insGTTGGGTGTGTTTGGTT
ENST00000447989.6:c.1455-17_1455-16insGTTGGGTGTGTTTGGTT	ENSP00000414132.2:n.1455-17_1455-16insGTTGGGTGTGTTTGGTT
ENST00000485852.6:n.313-17_313-16insGTTGGGTGTGTTTGGTT
ENST00000497231.6:n.1776-17_1776-16insGTTGGGTGTGTTTGGTT
ENST00000553117.5:c.1374-17_1374-16insGTTGGGTGTGTTTGGTT	ENSP00000448593.1:n.1374-17_1374-16insGTTGGGTGTGTTTGGTT
NM_001182.4:c.1566-17_1566-16insGTTGGGTGTGTTTGGTT	NP_001173.2:n.1566-17_1566-16insGTTGGGTGTGTTTGGTT
NM_001201377.1:c.1482-17_1482-16insGTTGGGTGTGTTTGGTT	NP_001188306.1:n.1482-17_1482-16insGTTGGGTGTGTTTGGTT
NM_001202404.1:c.1455-17_1455-16insGTTGGGTGTGTTTGGTT	NP_001189333.1:n.1455-17_1455-16insGTTGGGTGTGTTTGGTT
XM_011543417.1:c.1161-17_1161-16insGTTGGGTGTGTTTGGTT	XP_011541719.1:n.1161-17_1161-16insGTTGGGTGTGTTTGGTT
XM_011543417.2:c.1161-17_1161-16insGTTGGGTGTGTTTGGTT	XP_011541719.1:n.1161-17_1161-16insGTTGGGTGTGTTTGGTT
NM_001182.5:c.1566-17_1566-16insGTTGGGTGTGTTTGGTT MANE Select	NP_001173.2:n.1566-17_1566-16insGTTGGGTGTGTTTGGTT
NM_001201377.2:c.1482-17_1482-16insGTTGGGTGTGTTTGGTT	NP_001188306.1:n.1482-17_1482-16insGTTGGGTGTGTTTGGTT
NM_001202404.2:c.1374-17_1374-16insGTTGGGTGTGTTTGGTT	NP_001189333.2:n.1374-17_1374-16insGTTGGGTGTGTTTGGTT