Canonical Allele Identifier: CA562231068

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1055060090
• gnomAD v2: 5-125882347-A-AAT
• gnomAD v3: 5-126546655-A-AAT
• gnomAD v4: 5-126546655-A-AAT
• MyVariant Identifiers: chr5:g.125882347_125882348insAT (hg19) ; chr5:g.126546655_126546656insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546656_126546657insTA , CM000667.2:g.126546656_126546657insTA	GRCh38
NC_000005.9:g.125882348_125882349insTA , CM000667.1:g.125882348_125882349insTA	GRCh37
NC_000005.8:g.125910247_125910248insTA	NCBI36
NG_008600.2:g.53735_53736insAT
NG_008600.3:g.53735_53736insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-257_1490-256insAT MANE Select	ENSP00000387123.3:n.1490-257_1490-256insAT
ENST00000458249.6:c.*1399-257_*1399-256insAT	ENSP00000403929.1:n.*1399-257_*1399-256insAT
ENST00000485852.7:n.237-257_237-256insAT
ENST00000497231.7:n.1917-257_1917-256insAT
ENST00000635851.1:c.1488-257_1488-256insAT
ENST00000636225.1:c.*1434-257_*1434-256insAT	ENSP00000490797.1:n.*1434-257_*1434-256insAT
ENST00000636286.1:n.1255-257_1255-256insAT
ENST00000636482.1:n.1024-257_1024-256insAT
ENST00000636743.1:c.1370-257_1370-256insAT	ENSP00000489725.1:n.1370-257_1370-256insAT
ENST00000636808.1:c.*1299-257_*1299-256insAT	ENSP00000490833.1:n.*1299-257_*1299-256insAT
ENST00000636872.1:c.1650-257_1650-256insAT	ENSP00000490919.1:n.1650-257_1650-256insAT
ENST00000636879.1:c.1535-257_1535-256insAT	ENSP00000490811.1:n.1535-257_1535-256insAT
ENST00000636886.1:c.1289-257_1289-256insAT	ENSP00000490371.1:n.1289-257_1289-256insAT
ENST00000637206.1:c.1310-257_1310-256insAT	ENSP00000489895.1:n.1310-257_1310-256insAT
ENST00000637272.1:c.1481-257_1481-256insAT	ENSP00000489686.1:n.1481-257_1481-256insAT
ENST00000637292.1:c.946-257_946-256insAT
ENST00000637782.1:c.1490-257_1490-256insAT	ENSP00000490024.1:n.1490-257_1490-256insAT
ENST00000638008.1:c.*1334-257_*1334-256insAT	ENSP00000490400.1:n.*1334-257_*1334-256insAT
ENST00000638010.1:n.1436-257_1436-256insAT
ENST00000409134.7:c.1490-257_1490-256insAT	ENSP00000387123.3:n.1490-257_1490-256insAT
ENST00000447989.6:c.1379-257_1379-256insAT	ENSP00000414132.2:n.1379-257_1379-256insAT
ENST00000485852.6:n.237-257_237-256insAT
ENST00000497231.6:n.1700-257_1700-256insAT
ENST00000553117.5:c.1298-257_1298-256insAT	ENSP00000448593.1:n.1298-257_1298-256insAT
NM_001182.4:c.1490-257_1490-256insAT	NP_001173.2:n.1490-257_1490-256insAT
NM_001201377.1:c.1406-257_1406-256insAT	NP_001188306.1:n.1406-257_1406-256insAT
NM_001202404.1:c.1379-257_1379-256insAT	NP_001189333.1:n.1379-257_1379-256insAT
XM_011543417.1:c.1085-257_1085-256insAT	XP_011541719.1:n.1085-257_1085-256insAT
XM_011543417.2:c.1085-257_1085-256insAT	XP_011541719.1:n.1085-257_1085-256insAT
NM_001182.5:c.1490-257_1490-256insAT MANE Select	NP_001173.2:n.1490-257_1490-256insAT
NM_001201377.2:c.1406-257_1406-256insAT	NP_001188306.1:n.1406-257_1406-256insAT
NM_001202404.2:c.1298-257_1298-256insAT	NP_001189333.2:n.1298-257_1298-256insAT