Canonical Allele Identifier: CA1081220925

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1435798043
• gnomAD v3: 5-126545267-T-TTTTG
• gnomAD v4: 5-126545267-T-TTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545283_126545286dup , CM000667.2:g.126545283_126545286dup	GRCh38
NC_000005.9:g.125880975_125880978dup , CM000667.1:g.125880975_125880978dup	GRCh37
NC_000005.8:g.125908874_125908877dup	NCBI36
NG_008600.2:g.55120_55123dup
NG_008600.3:g.55120_55123dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-252_1566-249dup MANE Select	ENSP00000387123.3:n.1566-252_1566-249dup
ENST00000458249.6:c.*1475-252_*1475-249dup	ENSP00000403929.1:n.*1475-252_*1475-249dup
ENST00000485852.7:n.313-252_313-249dup
ENST00000497231.7:n.1993-252_1993-249dup
ENST00000635851.1:c.1563+1053_1563+1056dup
ENST00000636286.1:n.1331-252_1331-249dup
ENST00000636482.1:n.1100-252_1100-249dup
ENST00000636743.1:c.1446-252_1446-249dup	ENSP00000489725.1:n.1446-252_1446-249dup
ENST00000636808.1:c.*1375-252_*1375-249dup	ENSP00000490833.1:n.*1375-252_*1375-249dup
ENST00000636872.1:c.1726-252_1726-249dup	ENSP00000490919.1:n.1726-252_1726-249dup
ENST00000636879.1:c.1611-252_1611-249dup	ENSP00000490811.1:n.1611-252_1611-249dup
ENST00000636886.1:c.1365-252_1365-249dup	ENSP00000490371.1:n.1365-252_1365-249dup
ENST00000637206.1:c.1386-252_1386-249dup	ENSP00000489895.1:n.1386-252_1386-249dup
ENST00000637272.1:c.1557-252_1557-249dup	ENSP00000489686.1:n.1557-252_1557-249dup
ENST00000637292.1:c.1022-252_1022-249dup
ENST00000637782.1:c.1565+1053_1565+1056dup	ENSP00000490024.1:n.1565+1053_1565+1056dup
ENST00000638008.1:c.*1410-252_*1410-249dup	ENSP00000490400.1:n.*1410-252_*1410-249dup
ENST00000638010.1:n.1512-252_1512-249dup
ENST00000409134.7:c.1566-252_1566-249dup	ENSP00000387123.3:n.1566-252_1566-249dup
ENST00000447989.6:c.1455-252_1455-249dup	ENSP00000414132.2:n.1455-252_1455-249dup
ENST00000485852.6:n.313-252_313-249dup
ENST00000497231.6:n.1776-252_1776-249dup
ENST00000553117.5:c.1374-252_1374-249dup	ENSP00000448593.1:n.1374-252_1374-249dup
NM_001182.4:c.1566-252_1566-249dup	NP_001173.2:n.1566-252_1566-249dup
NM_001201377.1:c.1482-252_1482-249dup	NP_001188306.1:n.1482-252_1482-249dup
NM_001202404.1:c.1455-252_1455-249dup	NP_001189333.1:n.1455-252_1455-249dup
XM_011543417.1:c.1161-252_1161-249dup	XP_011541719.1:n.1161-252_1161-249dup
XM_011543417.2:c.1161-252_1161-249dup	XP_011541719.1:n.1161-252_1161-249dup
NM_001182.5:c.1566-252_1566-249dup MANE Select	NP_001173.2:n.1566-252_1566-249dup
NM_001201377.2:c.1482-252_1482-249dup	NP_001188306.1:n.1482-252_1482-249dup
NM_001202404.2:c.1374-252_1374-249dup	NP_001189333.2:n.1374-252_1374-249dup