Canonical Allele Identifier: CA1580441035

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546481_126546482delinsCA , CM000667.2:g.126546481_126546482delinsCA	GRCh38
NC_000005.9:g.125882173_125882174delinsCA , CM000667.1:g.125882173_125882174delinsCA	GRCh37
NC_000005.8:g.125910072_125910073delinsCA	NCBI36
NG_008600.2:g.53909_53910delinsTG
NG_008600.3:g.53909_53910delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-83_1490-82delinsTG MANE Select	ENSP00000387123.3:n.1490-83_1490-82delinsTG
ENST00000458249.6:c.*1399-83_*1399-82delinsTG	ENSP00000403929.1:n.*1399-83_*1399-82delinsTG
ENST00000485852.7:n.237-83_237-82delinsTG
ENST00000497231.7:n.1917-83_1917-82delinsTG
ENST00000635851.1:c.1488-83_1488-82delinsTG
ENST00000636225.1:c.*1434-83_*1434-82delinsTG	ENSP00000490797.1:n.*1434-83_*1434-82delinsTG
ENST00000636286.1:n.1255-83_1255-82delinsTG
ENST00000636482.1:n.1024-83_1024-82delinsTG
ENST00000636743.1:c.1370-83_1370-82delinsTG	ENSP00000489725.1:n.1370-83_1370-82delinsTG
ENST00000636808.1:c.*1299-83_*1299-82delinsTG	ENSP00000490833.1:n.*1299-83_*1299-82delinsTG
ENST00000636872.1:c.1650-83_1650-82delinsTG	ENSP00000490919.1:n.1650-83_1650-82delinsTG
ENST00000636879.1:c.1535-83_1535-82delinsTG	ENSP00000490811.1:n.1535-83_1535-82delinsTG
ENST00000636886.1:c.1289-83_1289-82delinsTG	ENSP00000490371.1:n.1289-83_1289-82delinsTG
ENST00000637206.1:c.1310-83_1310-82delinsTG	ENSP00000489895.1:n.1310-83_1310-82delinsTG
ENST00000637272.1:c.1481-83_1481-82delinsTG	ENSP00000489686.1:n.1481-83_1481-82delinsTG
ENST00000637292.1:c.946-83_946-82delinsTG
ENST00000637782.1:c.1490-83_1490-82delinsTG	ENSP00000490024.1:n.1490-83_1490-82delinsTG
ENST00000638008.1:c.*1334-83_*1334-82delinsTG	ENSP00000490400.1:n.*1334-83_*1334-82delinsTG
ENST00000638010.1:n.1436-83_1436-82delinsTG
ENST00000409134.7:c.1490-83_1490-82delinsTG	ENSP00000387123.3:n.1490-83_1490-82delinsTG
ENST00000447989.6:c.1379-83_1379-82delinsTG	ENSP00000414132.2:n.1379-83_1379-82delinsTG
ENST00000485852.6:n.237-83_237-82delinsTG
ENST00000497231.6:n.1700-83_1700-82delinsTG
ENST00000553117.5:c.1298-83_1298-82delinsTG	ENSP00000448593.1:n.1298-83_1298-82delinsTG
NM_001182.4:c.1490-83_1490-82delinsTG	NP_001173.2:n.1490-83_1490-82delinsTG
NM_001201377.1:c.1406-83_1406-82delinsTG	NP_001188306.1:n.1406-83_1406-82delinsTG
NM_001202404.1:c.1379-83_1379-82delinsTG	NP_001189333.1:n.1379-83_1379-82delinsTG
XM_011543417.1:c.1085-83_1085-82delinsTG	XP_011541719.1:n.1085-83_1085-82delinsTG
XM_011543417.2:c.1085-83_1085-82delinsTG	XP_011541719.1:n.1085-83_1085-82delinsTG
NM_001182.5:c.1490-83_1490-82delinsTG MANE Select	NP_001173.2:n.1490-83_1490-82delinsTG
NM_001201377.2:c.1406-83_1406-82delinsTG	NP_001188306.1:n.1406-83_1406-82delinsTG
NM_001202404.2:c.1298-83_1298-82delinsTG	NP_001189333.2:n.1298-83_1298-82delinsTG