Canonical Allele Identifier: CA126882403

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs745764976
• gnomAD v3: 5-126545265-GTTT-G
• gnomAD v4: 5-126545265-GTTT-G
• MyVariant Identifiers: chr5:g.125880958_125880960del (hg19) ; chr5:g.126545266_126545268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545268_126545270del , CM000667.2:g.126545268_126545270del	GRCh38
NC_000005.9:g.125880960_125880962del , CM000667.1:g.125880960_125880962del	GRCh37
NC_000005.8:g.125908859_125908861del	NCBI36
NG_008600.2:g.55123_55125del
NG_008600.3:g.55123_55125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-249_1566-247del MANE Select	ENSP00000387123.3:n.1566-249_1566-247del
ENST00000458249.6:c.*1475-249_*1475-247del	ENSP00000403929.1:n.*1475-249_*1475-247del
ENST00000485852.7:n.313-249_313-247del
ENST00000497231.7:n.1993-249_1993-247del
ENST00000635851.1:c.1563+1056_1563+1058del
ENST00000636286.1:n.1331-249_1331-247del
ENST00000636482.1:n.1100-249_1100-247del
ENST00000636743.1:c.1446-249_1446-247del	ENSP00000489725.1:n.1446-249_1446-247del
ENST00000636808.1:c.*1375-249_*1375-247del	ENSP00000490833.1:n.*1375-249_*1375-247del
ENST00000636872.1:c.1726-249_1726-247del	ENSP00000490919.1:n.1726-249_1726-247del
ENST00000636879.1:c.1611-249_1611-247del	ENSP00000490811.1:n.1611-249_1611-247del
ENST00000636886.1:c.1365-249_1365-247del	ENSP00000490371.1:n.1365-249_1365-247del
ENST00000637206.1:c.1386-249_1386-247del	ENSP00000489895.1:n.1386-249_1386-247del
ENST00000637272.1:c.1557-249_1557-247del	ENSP00000489686.1:n.1557-249_1557-247del
ENST00000637292.1:c.1022-249_1022-247del
ENST00000637782.1:c.1565+1056_1565+1058del	ENSP00000490024.1:n.1565+1056_1565+1058del
ENST00000638008.1:c.*1410-249_*1410-247del	ENSP00000490400.1:n.*1410-249_*1410-247del
ENST00000638010.1:n.1512-249_1512-247del
ENST00000409134.7:c.1566-249_1566-247del	ENSP00000387123.3:n.1566-249_1566-247del
ENST00000447989.6:c.1455-249_1455-247del	ENSP00000414132.2:n.1455-249_1455-247del
ENST00000485852.6:n.313-249_313-247del
ENST00000497231.6:n.1776-249_1776-247del
ENST00000553117.5:c.1374-249_1374-247del	ENSP00000448593.1:n.1374-249_1374-247del
NM_001182.4:c.1566-249_1566-247del	NP_001173.2:n.1566-249_1566-247del
NM_001201377.1:c.1482-249_1482-247del	NP_001188306.1:n.1482-249_1482-247del
NM_001202404.1:c.1455-249_1455-247del	NP_001189333.1:n.1455-249_1455-247del
XM_011543417.1:c.1161-249_1161-247del	XP_011541719.1:n.1161-249_1161-247del
XM_011543417.2:c.1161-249_1161-247del	XP_011541719.1:n.1161-249_1161-247del
NM_001182.5:c.1566-249_1566-247del MANE Select	NP_001173.2:n.1566-249_1566-247del
NM_001201377.2:c.1482-249_1482-247del	NP_001188306.1:n.1482-249_1482-247del
NM_001202404.2:c.1374-249_1374-247del	NP_001189333.2:n.1374-249_1374-247del