Canonical Allele Identifier: CA126882407

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs763508533
• gnomAD v3: 5-126545278-TGTTTG-T
• gnomAD v4: 5-126545278-TGTTTG-T
• MyVariant Identifiers: chr5:g.125880971_125880975del (hg19) ; chr5:g.126545279_126545283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545279_126545283del , CM000667.2:g.126545279_126545283del	GRCh38
NC_000005.9:g.125880971_125880975del , CM000667.1:g.125880971_125880975del	GRCh37
NC_000005.8:g.125908870_125908874del	NCBI36
NG_008600.2:g.55108_55112del
NG_008600.3:g.55108_55112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-264_1566-260del MANE Select	ENSP00000387123.3:n.1566-264_1566-260del
ENST00000458249.6:c.*1475-264_*1475-260del	ENSP00000403929.1:n.*1475-264_*1475-260del
ENST00000485852.7:n.313-264_313-260del
ENST00000497231.7:n.1993-264_1993-260del
ENST00000635851.1:c.1563+1041_1563+1045del
ENST00000636286.1:n.1331-264_1331-260del
ENST00000636482.1:n.1100-264_1100-260del
ENST00000636743.1:c.1446-264_1446-260del	ENSP00000489725.1:n.1446-264_1446-260del
ENST00000636808.1:c.*1375-264_*1375-260del	ENSP00000490833.1:n.*1375-264_*1375-260del
ENST00000636872.1:c.1726-264_1726-260del	ENSP00000490919.1:n.1726-264_1726-260del
ENST00000636879.1:c.1611-264_1611-260del	ENSP00000490811.1:n.1611-264_1611-260del
ENST00000636886.1:c.1365-264_1365-260del	ENSP00000490371.1:n.1365-264_1365-260del
ENST00000637206.1:c.1386-264_1386-260del	ENSP00000489895.1:n.1386-264_1386-260del
ENST00000637272.1:c.1557-264_1557-260del	ENSP00000489686.1:n.1557-264_1557-260del
ENST00000637292.1:c.1022-264_1022-260del
ENST00000637782.1:c.1565+1041_1565+1045del	ENSP00000490024.1:n.1565+1041_1565+1045del
ENST00000638008.1:c.*1410-264_*1410-260del	ENSP00000490400.1:n.*1410-264_*1410-260del
ENST00000638010.1:n.1512-264_1512-260del
ENST00000409134.7:c.1566-264_1566-260del	ENSP00000387123.3:n.1566-264_1566-260del
ENST00000447989.6:c.1455-264_1455-260del	ENSP00000414132.2:n.1455-264_1455-260del
ENST00000485852.6:n.313-264_313-260del
ENST00000497231.6:n.1776-264_1776-260del
ENST00000553117.5:c.1374-264_1374-260del	ENSP00000448593.1:n.1374-264_1374-260del
NM_001182.4:c.1566-264_1566-260del	NP_001173.2:n.1566-264_1566-260del
NM_001201377.1:c.1482-264_1482-260del	NP_001188306.1:n.1482-264_1482-260del
NM_001202404.1:c.1455-264_1455-260del	NP_001189333.1:n.1455-264_1455-260del
XM_011543417.1:c.1161-264_1161-260del	XP_011541719.1:n.1161-264_1161-260del
XM_011543417.2:c.1161-264_1161-260del	XP_011541719.1:n.1161-264_1161-260del
NM_001182.5:c.1566-264_1566-260del MANE Select	NP_001173.2:n.1566-264_1566-260del
NM_001201377.2:c.1482-264_1482-260del	NP_001188306.1:n.1482-264_1482-260del
NM_001202404.2:c.1374-264_1374-260del	NP_001189333.2:n.1374-264_1374-260del