Canonical Allele Identifier: CA1081220908

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1749748356
• gnomAD v3: 5-126545256-TTGG-T
• gnomAD v4: 5-126545256-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545264_126545266del , CM000667.2:g.126545264_126545266del	GRCh38
NC_000005.9:g.125880956_125880958del , CM000667.1:g.125880956_125880958del	GRCh37
NC_000005.8:g.125908855_125908857del	NCBI36
NG_008600.2:g.55132_55134del
NG_008600.3:g.55132_55134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-240_1566-238del MANE Select	ENSP00000387123.3:n.1566-240_1566-238del
ENST00000458249.6:c.*1475-240_*1475-238del	ENSP00000403929.1:n.*1475-240_*1475-238del
ENST00000485852.7:n.313-240_313-238del
ENST00000497231.7:n.1993-240_1993-238del
ENST00000635851.1:c.1563+1065_1563+1067del
ENST00000636286.1:n.1331-240_1331-238del
ENST00000636482.1:n.1100-240_1100-238del
ENST00000636743.1:c.1446-240_1446-238del	ENSP00000489725.1:n.1446-240_1446-238del
ENST00000636808.1:c.*1375-240_*1375-238del	ENSP00000490833.1:n.*1375-240_*1375-238del
ENST00000636872.1:c.1726-240_1726-238del	ENSP00000490919.1:n.1726-240_1726-238del
ENST00000636879.1:c.1611-240_1611-238del	ENSP00000490811.1:n.1611-240_1611-238del
ENST00000636886.1:c.1365-240_1365-238del	ENSP00000490371.1:n.1365-240_1365-238del
ENST00000637206.1:c.1386-240_1386-238del	ENSP00000489895.1:n.1386-240_1386-238del
ENST00000637272.1:c.1557-240_1557-238del	ENSP00000489686.1:n.1557-240_1557-238del
ENST00000637292.1:c.1022-240_1022-238del
ENST00000637782.1:c.1565+1065_1565+1067del	ENSP00000490024.1:n.1565+1065_1565+1067del
ENST00000638008.1:c.*1410-240_*1410-238del	ENSP00000490400.1:n.*1410-240_*1410-238del
ENST00000638010.1:n.1512-240_1512-238del
ENST00000409134.7:c.1566-240_1566-238del	ENSP00000387123.3:n.1566-240_1566-238del
ENST00000447989.6:c.1455-240_1455-238del	ENSP00000414132.2:n.1455-240_1455-238del
ENST00000485852.6:n.313-240_313-238del
ENST00000497231.6:n.1776-240_1776-238del
ENST00000553117.5:c.1374-240_1374-238del	ENSP00000448593.1:n.1374-240_1374-238del
NM_001182.4:c.1566-240_1566-238del	NP_001173.2:n.1566-240_1566-238del
NM_001201377.1:c.1482-240_1482-238del	NP_001188306.1:n.1482-240_1482-238del
NM_001202404.1:c.1455-240_1455-238del	NP_001189333.1:n.1455-240_1455-238del
XM_011543417.1:c.1161-240_1161-238del	XP_011541719.1:n.1161-240_1161-238del
XM_011543417.2:c.1161-240_1161-238del	XP_011541719.1:n.1161-240_1161-238del
NM_001182.5:c.1566-240_1566-238del MANE Select	NP_001173.2:n.1566-240_1566-238del
NM_001201377.2:c.1482-240_1482-238del	NP_001188306.1:n.1482-240_1482-238del
NM_001202404.2:c.1374-240_1374-238del	NP_001189333.2:n.1374-240_1374-238del