Canonical Allele Identifier: CA1580441104

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1749795816

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546651_126546652insTAA , CM000667.2:g.126546651_126546652insTAA	GRCh38
NC_000005.9:g.125882343_125882344insTAA , CM000667.1:g.125882343_125882344insTAA	GRCh37
NC_000005.8:g.125910242_125910243insTAA	NCBI36
NG_008600.2:g.53739_53740insTTA
NG_008600.3:g.53739_53740insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-253_1490-252insTTA MANE Select	ENSP00000387123.3:n.1490-253_1490-252insTTA
ENST00000458249.6:c.*1399-253_*1399-252insTTA	ENSP00000403929.1:n.*1399-253_*1399-252insTTA
ENST00000485852.7:n.237-253_237-252insTTA
ENST00000497231.7:n.1917-253_1917-252insTTA
ENST00000635851.1:c.1488-253_1488-252insTTA
ENST00000636225.1:c.*1434-253_*1434-252insTTA	ENSP00000490797.1:n.*1434-253_*1434-252insTTA
ENST00000636286.1:n.1255-253_1255-252insTTA
ENST00000636482.1:n.1024-253_1024-252insTTA
ENST00000636743.1:c.1370-253_1370-252insTTA	ENSP00000489725.1:n.1370-253_1370-252insTTA
ENST00000636808.1:c.*1299-253_*1299-252insTTA	ENSP00000490833.1:n.*1299-253_*1299-252insTTA
ENST00000636872.1:c.1650-253_1650-252insTTA	ENSP00000490919.1:n.1650-253_1650-252insTTA
ENST00000636879.1:c.1535-253_1535-252insTTA	ENSP00000490811.1:n.1535-253_1535-252insTTA
ENST00000636886.1:c.1289-253_1289-252insTTA	ENSP00000490371.1:n.1289-253_1289-252insTTA
ENST00000637206.1:c.1310-253_1310-252insTTA	ENSP00000489895.1:n.1310-253_1310-252insTTA
ENST00000637272.1:c.1481-253_1481-252insTTA	ENSP00000489686.1:n.1481-253_1481-252insTTA
ENST00000637292.1:c.946-253_946-252insTTA
ENST00000637782.1:c.1490-253_1490-252insTTA	ENSP00000490024.1:n.1490-253_1490-252insTTA
ENST00000638008.1:c.*1334-253_*1334-252insTTA	ENSP00000490400.1:n.*1334-253_*1334-252insTTA
ENST00000638010.1:n.1436-253_1436-252insTTA
ENST00000409134.7:c.1490-253_1490-252insTTA	ENSP00000387123.3:n.1490-253_1490-252insTTA
ENST00000447989.6:c.1379-253_1379-252insTTA	ENSP00000414132.2:n.1379-253_1379-252insTTA
ENST00000485852.6:n.237-253_237-252insTTA
ENST00000497231.6:n.1700-253_1700-252insTTA
ENST00000553117.5:c.1298-253_1298-252insTTA	ENSP00000448593.1:n.1298-253_1298-252insTTA
NM_001182.4:c.1490-253_1490-252insTTA	NP_001173.2:n.1490-253_1490-252insTTA
NM_001201377.1:c.1406-253_1406-252insTTA	NP_001188306.1:n.1406-253_1406-252insTTA
NM_001202404.1:c.1379-253_1379-252insTTA	NP_001189333.1:n.1379-253_1379-252insTTA
XM_011543417.1:c.1085-253_1085-252insTTA	XP_011541719.1:n.1085-253_1085-252insTTA
XM_011543417.2:c.1085-253_1085-252insTTA	XP_011541719.1:n.1085-253_1085-252insTTA
NM_001182.5:c.1490-253_1490-252insTTA MANE Select	NP_001173.2:n.1490-253_1490-252insTTA
NM_001201377.2:c.1406-253_1406-252insTTA	NP_001188306.1:n.1406-253_1406-252insTTA
NM_001202404.2:c.1298-253_1298-252insTTA	NP_001189333.2:n.1298-253_1298-252insTTA