Canonical Allele Identifier: CA2532592402

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545398_126545399insCTAGTAGCCTCC , CM000667.2:g.126545398_126545399insCTAGTAGCCTCC	GRCh38
NC_000005.9:g.125881090_125881091insCTAGTAGCCTCC , CM000667.1:g.125881090_125881091insCTAGTAGCCTCC	GRCh37
NC_000005.8:g.125908989_125908990insCTAGTAGCCTCC	NCBI36
NG_008600.2:g.54999_55000insACTAGGGAGGCT
NG_008600.3:g.54999_55000insACTAGGGAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-373_1566-372insACTAGGGAGGCT MANE Select	ENSP00000387123.3:n.1566-373_1566-372insACTAGGGAGGCT
ENST00000458249.6:c.*1475-373_*1475-372insACTAGGGAGGCT	ENSP00000403929.1:n.*1475-373_*1475-372insACTAGGGAGGCT
ENST00000485852.7:n.313-373_313-372insACTAGGGAGGCT
ENST00000497231.7:n.1993-373_1993-372insACTAGGGAGGCT
ENST00000635851.1:c.1563+932_1563+933insACTAGGGAGGCT
ENST00000636286.1:n.1331-373_1331-372insACTAGGGAGGCT
ENST00000636482.1:n.1100-373_1100-372insACTAGGGAGGCT
ENST00000636743.1:c.1446-373_1446-372insACTAGGGAGGCT	ENSP00000489725.1:n.1446-373_1446-372insACTAGGGAGGCT
ENST00000636808.1:c.*1375-373_*1375-372insACTAGGGAGGCT	ENSP00000490833.1:n.*1375-373_*1375-372insACTAGGGAGGCT
ENST00000636872.1:c.1726-373_1726-372insACTAGGGAGGCT	ENSP00000490919.1:n.1726-373_1726-372insACTAGGGAGGCT
ENST00000636879.1:c.1611-373_1611-372insACTAGGGAGGCT	ENSP00000490811.1:n.1611-373_1611-372insACTAGGGAGGCT
ENST00000636886.1:c.1365-373_1365-372insACTAGGGAGGCT	ENSP00000490371.1:n.1365-373_1365-372insACTAGGGAGGCT
ENST00000637206.1:c.1386-373_1386-372insACTAGGGAGGCT	ENSP00000489895.1:n.1386-373_1386-372insACTAGGGAGGCT
ENST00000637272.1:c.1557-373_1557-372insACTAGGGAGGCT	ENSP00000489686.1:n.1557-373_1557-372insACTAGGGAGGCT
ENST00000637292.1:c.1022-373_1022-372insACTAGGGAGGCT
ENST00000637782.1:c.1565+932_1565+933insACTAGGGAGGCT	ENSP00000490024.1:n.1565+932_1565+933insACTAGGGAGGCT
ENST00000638008.1:c.*1410-373_*1410-372insACTAGGGAGGCT	ENSP00000490400.1:n.*1410-373_*1410-372insACTAGGGAGGCT
ENST00000638010.1:n.1512-373_1512-372insACTAGGGAGGCT
ENST00000409134.7:c.1566-373_1566-372insACTAGGGAGGCT	ENSP00000387123.3:n.1566-373_1566-372insACTAGGGAGGCT
ENST00000447989.6:c.1455-373_1455-372insACTAGGGAGGCT	ENSP00000414132.2:n.1455-373_1455-372insACTAGGGAGGCT
ENST00000485852.6:n.313-373_313-372insACTAGGGAGGCT
ENST00000497231.6:n.1776-373_1776-372insACTAGGGAGGCT
ENST00000553117.5:c.1374-373_1374-372insACTAGGGAGGCT	ENSP00000448593.1:n.1374-373_1374-372insACTAGGGAGGCT
NM_001182.4:c.1566-373_1566-372insACTAGGGAGGCT	NP_001173.2:n.1566-373_1566-372insACTAGGGAGGCT
NM_001201377.1:c.1482-373_1482-372insACTAGGGAGGCT	NP_001188306.1:n.1482-373_1482-372insACTAGGGAGGCT
NM_001202404.1:c.1455-373_1455-372insACTAGGGAGGCT	NP_001189333.1:n.1455-373_1455-372insACTAGGGAGGCT
XM_011543417.1:c.1161-373_1161-372insACTAGGGAGGCT	XP_011541719.1:n.1161-373_1161-372insACTAGGGAGGCT
XM_011543417.2:c.1161-373_1161-372insACTAGGGAGGCT	XP_011541719.1:n.1161-373_1161-372insACTAGGGAGGCT
NM_001182.5:c.1566-373_1566-372insACTAGGGAGGCT MANE Select	NP_001173.2:n.1566-373_1566-372insACTAGGGAGGCT
NM_001201377.2:c.1482-373_1482-372insACTAGGGAGGCT	NP_001188306.1:n.1482-373_1482-372insACTAGGGAGGCT
NM_001202404.2:c.1374-373_1374-372insACTAGGGAGGCT	NP_001189333.2:n.1374-373_1374-372insACTAGGGAGGCT