Canonical Allele Identifier: CA1580441048

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546507_126546512delinsATTTAC , CM000667.2:g.126546507_126546512delinsATTTAC	GRCh38
NC_000005.9:g.125882199_125882204delinsATTTAC , CM000667.1:g.125882199_125882204delinsATTTAC	GRCh37
NC_000005.8:g.125910098_125910103delinsATTTAC	NCBI36
NG_008600.2:g.53879_53884delinsGTAAAT
NG_008600.3:g.53879_53884delinsGTAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-113_1490-108delinsGTAAAT MANE Select	ENSP00000387123.3:n.1490-113_1490-108delinsGTAAAT
ENST00000458249.6:c.*1399-113_*1399-108delinsGTAAAT	ENSP00000403929.1:n.*1399-113_*1399-108delinsGTAAAT
ENST00000485852.7:n.237-113_237-108delinsGTAAAT
ENST00000497231.7:n.1917-113_1917-108delinsGTAAAT
ENST00000635851.1:c.1488-113_1488-108delinsGTAAAT
ENST00000636225.1:c.*1434-113_*1434-108delinsGTAAAT	ENSP00000490797.1:n.*1434-113_*1434-108delinsGTAAAT
ENST00000636286.1:n.1255-113_1255-108delinsGTAAAT
ENST00000636482.1:n.1024-113_1024-108delinsGTAAAT
ENST00000636743.1:c.1370-113_1370-108delinsGTAAAT	ENSP00000489725.1:n.1370-113_1370-108delinsGTAAAT
ENST00000636808.1:c.*1299-113_*1299-108delinsGTAAAT	ENSP00000490833.1:n.*1299-113_*1299-108delinsGTAAAT
ENST00000636872.1:c.1650-113_1650-108delinsGTAAAT	ENSP00000490919.1:n.1650-113_1650-108delinsGTAAAT
ENST00000636879.1:c.1535-113_1535-108delinsGTAAAT	ENSP00000490811.1:n.1535-113_1535-108delinsGTAAAT
ENST00000636886.1:c.1289-113_1289-108delinsGTAAAT	ENSP00000490371.1:n.1289-113_1289-108delinsGTAAAT
ENST00000637206.1:c.1310-113_1310-108delinsGTAAAT	ENSP00000489895.1:n.1310-113_1310-108delinsGTAAAT
ENST00000637272.1:c.1481-113_1481-108delinsGTAAAT	ENSP00000489686.1:n.1481-113_1481-108delinsGTAAAT
ENST00000637292.1:c.946-113_946-108delinsGTAAAT
ENST00000637782.1:c.1490-113_1490-108delinsGTAAAT	ENSP00000490024.1:n.1490-113_1490-108delinsGTAAAT
ENST00000638008.1:c.*1334-113_*1334-108delinsGTAAAT	ENSP00000490400.1:n.*1334-113_*1334-108delinsGTAAAT
ENST00000638010.1:n.1436-113_1436-108delinsGTAAAT
ENST00000409134.7:c.1490-113_1490-108delinsGTAAAT	ENSP00000387123.3:n.1490-113_1490-108delinsGTAAAT
ENST00000447989.6:c.1379-113_1379-108delinsGTAAAT	ENSP00000414132.2:n.1379-113_1379-108delinsGTAAAT
ENST00000485852.6:n.237-113_237-108delinsGTAAAT
ENST00000497231.6:n.1700-113_1700-108delinsGTAAAT
ENST00000553117.5:c.1298-113_1298-108delinsGTAAAT	ENSP00000448593.1:n.1298-113_1298-108delinsGTAAAT
NM_001182.4:c.1490-113_1490-108delinsGTAAAT	NP_001173.2:n.1490-113_1490-108delinsGTAAAT
NM_001201377.1:c.1406-113_1406-108delinsGTAAAT	NP_001188306.1:n.1406-113_1406-108delinsGTAAAT
NM_001202404.1:c.1379-113_1379-108delinsGTAAAT	NP_001189333.1:n.1379-113_1379-108delinsGTAAAT
XM_011543417.1:c.1085-113_1085-108delinsGTAAAT	XP_011541719.1:n.1085-113_1085-108delinsGTAAAT
XM_011543417.2:c.1085-113_1085-108delinsGTAAAT	XP_011541719.1:n.1085-113_1085-108delinsGTAAAT
NM_001182.5:c.1490-113_1490-108delinsGTAAAT MANE Select	NP_001173.2:n.1490-113_1490-108delinsGTAAAT
NM_001201377.2:c.1406-113_1406-108delinsGTAAAT	NP_001188306.1:n.1406-113_1406-108delinsGTAAAT
NM_001202404.2:c.1298-113_1298-108delinsGTAAAT	NP_001189333.2:n.1298-113_1298-108delinsGTAAAT