Canonical Allele Identifier: CA1580440444

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545063_126545065delinsCAG , CM000667.2:g.126545063_126545065delinsCAG	GRCh38
NC_000005.9:g.125880755_125880757delinsCAG , CM000667.1:g.125880755_125880757delinsCAG	GRCh37
NC_000005.8:g.125908654_125908656delinsCAG	NCBI36
NG_008600.2:g.55326_55328delinsCTG
NG_008600.3:g.55326_55328delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-46_1566-44delinsCTG MANE Select	ENSP00000387123.3:n.1566-46_1566-44delinsCTG
ENST00000458249.6:c.*1475-46_*1475-44delinsCTG	ENSP00000403929.1:n.*1475-46_*1475-44delinsCTG
ENST00000485852.7:n.313-46_313-44delinsCTG
ENST00000497231.7:n.1993-46_1993-44delinsCTG
ENST00000635851.1:c.1563+1259_1563+1261delinsCTG
ENST00000636286.1:n.1331-46_1331-44delinsCTG
ENST00000636482.1:n.1100-46_1100-44delinsCTG
ENST00000636743.1:c.1446-46_1446-44delinsCTG	ENSP00000489725.1:n.1446-46_1446-44delinsCTG
ENST00000636808.1:c.*1375-46_*1375-44delinsCTG	ENSP00000490833.1:n.*1375-46_*1375-44delinsCTG
ENST00000636872.1:c.1726-46_1726-44delinsCTG	ENSP00000490919.1:n.1726-46_1726-44delinsCTG
ENST00000636879.1:c.1611-46_1611-44delinsCTG	ENSP00000490811.1:n.1611-46_1611-44delinsCTG
ENST00000636886.1:c.1365-46_1365-44delinsCTG	ENSP00000490371.1:n.1365-46_1365-44delinsCTG
ENST00000637206.1:c.1386-46_1386-44delinsCTG	ENSP00000489895.1:n.1386-46_1386-44delinsCTG
ENST00000637272.1:c.1557-46_1557-44delinsCTG	ENSP00000489686.1:n.1557-46_1557-44delinsCTG
ENST00000637292.1:c.1022-46_1022-44delinsCTG
ENST00000637782.1:c.1565+1259_1565+1261delinsCTG	ENSP00000490024.1:n.1565+1259_1565+1261delinsCTG
ENST00000638008.1:c.*1410-46_*1410-44delinsCTG	ENSP00000490400.1:n.*1410-46_*1410-44delinsCTG
ENST00000638010.1:n.1512-46_1512-44delinsCTG
ENST00000409134.7:c.1566-46_1566-44delinsCTG	ENSP00000387123.3:n.1566-46_1566-44delinsCTG
ENST00000447989.6:c.1455-46_1455-44delinsCTG	ENSP00000414132.2:n.1455-46_1455-44delinsCTG
ENST00000485852.6:n.313-46_313-44delinsCTG
ENST00000497231.6:n.1776-46_1776-44delinsCTG
ENST00000553117.5:c.1374-46_1374-44delinsCTG	ENSP00000448593.1:n.1374-46_1374-44delinsCTG
NM_001182.4:c.1566-46_1566-44delinsCTG	NP_001173.2:n.1566-46_1566-44delinsCTG
NM_001201377.1:c.1482-46_1482-44delinsCTG	NP_001188306.1:n.1482-46_1482-44delinsCTG
NM_001202404.1:c.1455-46_1455-44delinsCTG	NP_001189333.1:n.1455-46_1455-44delinsCTG
XM_011543417.1:c.1161-46_1161-44delinsCTG	XP_011541719.1:n.1161-46_1161-44delinsCTG
XM_011543417.2:c.1161-46_1161-44delinsCTG	XP_011541719.1:n.1161-46_1161-44delinsCTG
NM_001182.5:c.1566-46_1566-44delinsCTG MANE Select	NP_001173.2:n.1566-46_1566-44delinsCTG
NM_001201377.2:c.1482-46_1482-44delinsCTG	NP_001188306.1:n.1482-46_1482-44delinsCTG
NM_001202404.2:c.1374-46_1374-44delinsCTG	NP_001189333.2:n.1374-46_1374-44delinsCTG