Canonical Allele Identifier: CA1580440436

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545050_126545051delinsAG , CM000667.2:g.126545050_126545051delinsAG	GRCh38
NC_000005.9:g.125880742_125880743delinsAG , CM000667.1:g.125880742_125880743delinsAG	GRCh37
NC_000005.8:g.125908641_125908642delinsAG	NCBI36
NG_008600.2:g.55340_55341delinsCT
NG_008600.3:g.55340_55341delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-32_1566-31delinsCT MANE Select	ENSP00000387123.3:n.1566-32_1566-31delinsCT
ENST00000458249.6:c.*1475-32_*1475-31delinsCT	ENSP00000403929.1:n.*1475-32_*1475-31delinsCT
ENST00000485852.7:n.313-32_313-31delinsCT
ENST00000497231.7:n.1993-32_1993-31delinsCT
ENST00000635851.1:c.1563+1273_1563+1274delinsCT
ENST00000636286.1:n.1331-32_1331-31delinsCT
ENST00000636482.1:n.1100-32_1100-31delinsCT
ENST00000636743.1:c.1446-32_1446-31delinsCT	ENSP00000489725.1:n.1446-32_1446-31delinsCT
ENST00000636808.1:c.*1375-32_*1375-31delinsCT	ENSP00000490833.1:n.*1375-32_*1375-31delinsCT
ENST00000636872.1:c.1726-32_1726-31delinsCT	ENSP00000490919.1:n.1726-32_1726-31delinsCT
ENST00000636879.1:c.1611-32_1611-31delinsCT	ENSP00000490811.1:n.1611-32_1611-31delinsCT
ENST00000636886.1:c.1365-32_1365-31delinsCT	ENSP00000490371.1:n.1365-32_1365-31delinsCT
ENST00000637206.1:c.1386-32_1386-31delinsCT	ENSP00000489895.1:n.1386-32_1386-31delinsCT
ENST00000637272.1:c.1557-32_1557-31delinsCT	ENSP00000489686.1:n.1557-32_1557-31delinsCT
ENST00000637292.1:c.1022-32_1022-31delinsCT
ENST00000637782.1:c.1565+1273_1565+1274delinsCT	ENSP00000490024.1:n.1565+1273_1565+1274delinsCT
ENST00000638008.1:c.*1410-32_*1410-31delinsCT	ENSP00000490400.1:n.*1410-32_*1410-31delinsCT
ENST00000638010.1:n.1512-32_1512-31delinsCT
ENST00000409134.7:c.1566-32_1566-31delinsCT	ENSP00000387123.3:n.1566-32_1566-31delinsCT
ENST00000447989.6:c.1455-32_1455-31delinsCT	ENSP00000414132.2:n.1455-32_1455-31delinsCT
ENST00000485852.6:n.313-32_313-31delinsCT
ENST00000497231.6:n.1776-32_1776-31delinsCT
ENST00000553117.5:c.1374-32_1374-31delinsCT	ENSP00000448593.1:n.1374-32_1374-31delinsCT
NM_001182.4:c.1566-32_1566-31delinsCT	NP_001173.2:n.1566-32_1566-31delinsCT
NM_001201377.1:c.1482-32_1482-31delinsCT	NP_001188306.1:n.1482-32_1482-31delinsCT
NM_001202404.1:c.1455-32_1455-31delinsCT	NP_001189333.1:n.1455-32_1455-31delinsCT
XM_011543417.1:c.1161-32_1161-31delinsCT	XP_011541719.1:n.1161-32_1161-31delinsCT
XM_011543417.2:c.1161-32_1161-31delinsCT	XP_011541719.1:n.1161-32_1161-31delinsCT
NM_001182.5:c.1566-32_1566-31delinsCT MANE Select	NP_001173.2:n.1566-32_1566-31delinsCT
NM_001201377.2:c.1482-32_1482-31delinsCT	NP_001188306.1:n.1482-32_1482-31delinsCT
NM_001202404.2:c.1374-32_1374-31delinsCT	NP_001189333.2:n.1374-32_1374-31delinsCT