Canonical Allele Identifier: CA1580441101

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546651_126546653delinsTAA , CM000667.2:g.126546651_126546653delinsTAA	GRCh38
NC_000005.9:g.125882343_125882345delinsTAA , CM000667.1:g.125882343_125882345delinsTAA	GRCh37
NC_000005.8:g.125910242_125910244delinsTAA	NCBI36
NG_008600.2:g.53738_53740delinsTTA
NG_008600.3:g.53738_53740delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-254_1490-252delinsTTA MANE Select	ENSP00000387123.3:n.1490-254_1490-252delinsTTA
ENST00000458249.6:c.*1399-254_*1399-252delinsTTA	ENSP00000403929.1:n.*1399-254_*1399-252delinsTTA
ENST00000485852.7:n.237-254_237-252delinsTTA
ENST00000497231.7:n.1917-254_1917-252delinsTTA
ENST00000635851.1:c.1488-254_1488-252delinsTTA
ENST00000636225.1:c.*1434-254_*1434-252delinsTTA	ENSP00000490797.1:n.*1434-254_*1434-252delinsTTA
ENST00000636286.1:n.1255-254_1255-252delinsTTA
ENST00000636482.1:n.1024-254_1024-252delinsTTA
ENST00000636743.1:c.1370-254_1370-252delinsTTA	ENSP00000489725.1:n.1370-254_1370-252delinsTTA
ENST00000636808.1:c.*1299-254_*1299-252delinsTTA	ENSP00000490833.1:n.*1299-254_*1299-252delinsTTA
ENST00000636872.1:c.1650-254_1650-252delinsTTA	ENSP00000490919.1:n.1650-254_1650-252delinsTTA
ENST00000636879.1:c.1535-254_1535-252delinsTTA	ENSP00000490811.1:n.1535-254_1535-252delinsTTA
ENST00000636886.1:c.1289-254_1289-252delinsTTA	ENSP00000490371.1:n.1289-254_1289-252delinsTTA
ENST00000637206.1:c.1310-254_1310-252delinsTTA	ENSP00000489895.1:n.1310-254_1310-252delinsTTA
ENST00000637272.1:c.1481-254_1481-252delinsTTA	ENSP00000489686.1:n.1481-254_1481-252delinsTTA
ENST00000637292.1:c.946-254_946-252delinsTTA
ENST00000637782.1:c.1490-254_1490-252delinsTTA	ENSP00000490024.1:n.1490-254_1490-252delinsTTA
ENST00000638008.1:c.*1334-254_*1334-252delinsTTA	ENSP00000490400.1:n.*1334-254_*1334-252delinsTTA
ENST00000638010.1:n.1436-254_1436-252delinsTTA
ENST00000409134.7:c.1490-254_1490-252delinsTTA	ENSP00000387123.3:n.1490-254_1490-252delinsTTA
ENST00000447989.6:c.1379-254_1379-252delinsTTA	ENSP00000414132.2:n.1379-254_1379-252delinsTTA
ENST00000485852.6:n.237-254_237-252delinsTTA
ENST00000497231.6:n.1700-254_1700-252delinsTTA
ENST00000553117.5:c.1298-254_1298-252delinsTTA	ENSP00000448593.1:n.1298-254_1298-252delinsTTA
NM_001182.4:c.1490-254_1490-252delinsTTA	NP_001173.2:n.1490-254_1490-252delinsTTA
NM_001201377.1:c.1406-254_1406-252delinsTTA	NP_001188306.1:n.1406-254_1406-252delinsTTA
NM_001202404.1:c.1379-254_1379-252delinsTTA	NP_001189333.1:n.1379-254_1379-252delinsTTA
XM_011543417.1:c.1085-254_1085-252delinsTTA	XP_011541719.1:n.1085-254_1085-252delinsTTA
XM_011543417.2:c.1085-254_1085-252delinsTTA	XP_011541719.1:n.1085-254_1085-252delinsTTA
NM_001182.5:c.1490-254_1490-252delinsTTA MANE Select	NP_001173.2:n.1490-254_1490-252delinsTTA
NM_001201377.2:c.1406-254_1406-252delinsTTA	NP_001188306.1:n.1406-254_1406-252delinsTTA
NM_001202404.2:c.1298-254_1298-252delinsTTA	NP_001189333.2:n.1298-254_1298-252delinsTTA