Canonical Allele Identifier: CA1081221858

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1749795641
• gnomAD v3: 5-126546650-G-GAA
• gnomAD v4: 5-126546650-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546650_126546651insAA , CM000667.2:g.126546650_126546651insAA	GRCh38
NC_000005.9:g.125882342_125882343insAA , CM000667.1:g.125882342_125882343insAA	GRCh37
NC_000005.8:g.125910241_125910242insAA	NCBI36
NG_008600.2:g.53740_53741insTT
NG_008600.3:g.53740_53741insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-252_1490-251insTT MANE Select	ENSP00000387123.3:n.1490-252_1490-251insTT
ENST00000458249.6:c.*1399-252_*1399-251insTT	ENSP00000403929.1:n.*1399-252_*1399-251insTT
ENST00000485852.7:n.237-252_237-251insTT
ENST00000497231.7:n.1917-252_1917-251insTT
ENST00000635851.1:c.1488-252_1488-251insTT
ENST00000636225.1:c.*1434-252_*1434-251insTT	ENSP00000490797.1:n.*1434-252_*1434-251insTT
ENST00000636286.1:n.1255-252_1255-251insTT
ENST00000636482.1:n.1024-252_1024-251insTT
ENST00000636743.1:c.1370-252_1370-251insTT	ENSP00000489725.1:n.1370-252_1370-251insTT
ENST00000636808.1:c.*1299-252_*1299-251insTT	ENSP00000490833.1:n.*1299-252_*1299-251insTT
ENST00000636872.1:c.1650-252_1650-251insTT	ENSP00000490919.1:n.1650-252_1650-251insTT
ENST00000636879.1:c.1535-252_1535-251insTT	ENSP00000490811.1:n.1535-252_1535-251insTT
ENST00000636886.1:c.1289-252_1289-251insTT	ENSP00000490371.1:n.1289-252_1289-251insTT
ENST00000637206.1:c.1310-252_1310-251insTT	ENSP00000489895.1:n.1310-252_1310-251insTT
ENST00000637272.1:c.1481-252_1481-251insTT	ENSP00000489686.1:n.1481-252_1481-251insTT
ENST00000637292.1:c.946-252_946-251insTT
ENST00000637782.1:c.1490-252_1490-251insTT	ENSP00000490024.1:n.1490-252_1490-251insTT
ENST00000638008.1:c.*1334-252_*1334-251insTT	ENSP00000490400.1:n.*1334-252_*1334-251insTT
ENST00000638010.1:n.1436-252_1436-251insTT
ENST00000409134.7:c.1490-252_1490-251insTT	ENSP00000387123.3:n.1490-252_1490-251insTT
ENST00000447989.6:c.1379-252_1379-251insTT	ENSP00000414132.2:n.1379-252_1379-251insTT
ENST00000485852.6:n.237-252_237-251insTT
ENST00000497231.6:n.1700-252_1700-251insTT
ENST00000553117.5:c.1298-252_1298-251insTT	ENSP00000448593.1:n.1298-252_1298-251insTT
NM_001182.4:c.1490-252_1490-251insTT	NP_001173.2:n.1490-252_1490-251insTT
NM_001201377.1:c.1406-252_1406-251insTT	NP_001188306.1:n.1406-252_1406-251insTT
NM_001202404.1:c.1379-252_1379-251insTT	NP_001189333.1:n.1379-252_1379-251insTT
XM_011543417.1:c.1085-252_1085-251insTT	XP_011541719.1:n.1085-252_1085-251insTT
XM_011543417.2:c.1085-252_1085-251insTT	XP_011541719.1:n.1085-252_1085-251insTT
NM_001182.5:c.1490-252_1490-251insTT MANE Select	NP_001173.2:n.1490-252_1490-251insTT
NM_001201377.2:c.1406-252_1406-251insTT	NP_001188306.1:n.1406-252_1406-251insTT
NM_001202404.2:c.1298-252_1298-251insTT	NP_001189333.2:n.1298-252_1298-251insTT