Canonical Allele Identifier: CA1580441078

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546582_126546583delinsAG , CM000667.2:g.126546582_126546583delinsAG	GRCh38
NC_000005.9:g.125882274_125882275delinsAG , CM000667.1:g.125882274_125882275delinsAG	GRCh37
NC_000005.8:g.125910173_125910174delinsAG	NCBI36
NG_008600.2:g.53808_53809delinsCT
NG_008600.3:g.53808_53809delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-184_1490-183delinsCT MANE Select	ENSP00000387123.3:n.1490-184_1490-183delinsCT
ENST00000458249.6:c.*1399-184_*1399-183delinsCT	ENSP00000403929.1:n.*1399-184_*1399-183delinsCT
ENST00000485852.7:n.237-184_237-183delinsCT
ENST00000497231.7:n.1917-184_1917-183delinsCT
ENST00000635851.1:c.1488-184_1488-183delinsCT
ENST00000636225.1:c.*1434-184_*1434-183delinsCT	ENSP00000490797.1:n.*1434-184_*1434-183delinsCT
ENST00000636286.1:n.1255-184_1255-183delinsCT
ENST00000636482.1:n.1024-184_1024-183delinsCT
ENST00000636743.1:c.1370-184_1370-183delinsCT	ENSP00000489725.1:n.1370-184_1370-183delinsCT
ENST00000636808.1:c.*1299-184_*1299-183delinsCT	ENSP00000490833.1:n.*1299-184_*1299-183delinsCT
ENST00000636872.1:c.1650-184_1650-183delinsCT	ENSP00000490919.1:n.1650-184_1650-183delinsCT
ENST00000636879.1:c.1535-184_1535-183delinsCT	ENSP00000490811.1:n.1535-184_1535-183delinsCT
ENST00000636886.1:c.1289-184_1289-183delinsCT	ENSP00000490371.1:n.1289-184_1289-183delinsCT
ENST00000637206.1:c.1310-184_1310-183delinsCT	ENSP00000489895.1:n.1310-184_1310-183delinsCT
ENST00000637272.1:c.1481-184_1481-183delinsCT	ENSP00000489686.1:n.1481-184_1481-183delinsCT
ENST00000637292.1:c.946-184_946-183delinsCT
ENST00000637782.1:c.1490-184_1490-183delinsCT	ENSP00000490024.1:n.1490-184_1490-183delinsCT
ENST00000638008.1:c.*1334-184_*1334-183delinsCT	ENSP00000490400.1:n.*1334-184_*1334-183delinsCT
ENST00000638010.1:n.1436-184_1436-183delinsCT
ENST00000409134.7:c.1490-184_1490-183delinsCT	ENSP00000387123.3:n.1490-184_1490-183delinsCT
ENST00000447989.6:c.1379-184_1379-183delinsCT	ENSP00000414132.2:n.1379-184_1379-183delinsCT
ENST00000485852.6:n.237-184_237-183delinsCT
ENST00000497231.6:n.1700-184_1700-183delinsCT
ENST00000553117.5:c.1298-184_1298-183delinsCT	ENSP00000448593.1:n.1298-184_1298-183delinsCT
NM_001182.4:c.1490-184_1490-183delinsCT	NP_001173.2:n.1490-184_1490-183delinsCT
NM_001201377.1:c.1406-184_1406-183delinsCT	NP_001188306.1:n.1406-184_1406-183delinsCT
NM_001202404.1:c.1379-184_1379-183delinsCT	NP_001189333.1:n.1379-184_1379-183delinsCT
XM_011543417.1:c.1085-184_1085-183delinsCT	XP_011541719.1:n.1085-184_1085-183delinsCT
XM_011543417.2:c.1085-184_1085-183delinsCT	XP_011541719.1:n.1085-184_1085-183delinsCT
NM_001182.5:c.1490-184_1490-183delinsCT MANE Select	NP_001173.2:n.1490-184_1490-183delinsCT
NM_001201377.2:c.1406-184_1406-183delinsCT	NP_001188306.1:n.1406-184_1406-183delinsCT
NM_001202404.2:c.1298-184_1298-183delinsCT	NP_001189333.2:n.1298-184_1298-183delinsCT