Canonical Allele Identifier: CA126883295

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 1223124
• ClinVar RCV Id: RCV001596064
• dbSNP Id: rs200663499
• gnomAD v2: 5-125882346-A-AAG
• gnomAD v3: 5-126546654-A-AAG
• gnomAD v4: 5-126546654-A-AAG
• MyVariant Identifiers: chr5:g.125882346_125882347insAG (hg19) ; chr5:g.126546654_126546655insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546655_126546656insGA , CM000667.2:g.126546655_126546656insGA	GRCh38
NC_000005.9:g.125882347_125882348insGA , CM000667.1:g.125882347_125882348insGA	GRCh37
NC_000005.8:g.125910246_125910247insGA	NCBI36
NG_008600.2:g.53736_53737insCT
NG_008600.3:g.53736_53737insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-256_1490-255insCT MANE Select	ENSP00000387123.3:n.1490-256_1490-255insCT
ENST00000458249.6:c.*1399-256_*1399-255insCT	ENSP00000403929.1:n.*1399-256_*1399-255insCT
ENST00000485852.7:n.237-256_237-255insCT
ENST00000497231.7:n.1917-256_1917-255insCT
ENST00000635851.1:c.1488-256_1488-255insCT
ENST00000636225.1:c.*1434-256_*1434-255insCT	ENSP00000490797.1:n.*1434-256_*1434-255insCT
ENST00000636286.1:n.1255-256_1255-255insCT
ENST00000636482.1:n.1024-256_1024-255insCT
ENST00000636743.1:c.1370-256_1370-255insCT	ENSP00000489725.1:n.1370-256_1370-255insCT
ENST00000636808.1:c.*1299-256_*1299-255insCT	ENSP00000490833.1:n.*1299-256_*1299-255insCT
ENST00000636872.1:c.1650-256_1650-255insCT	ENSP00000490919.1:n.1650-256_1650-255insCT
ENST00000636879.1:c.1535-256_1535-255insCT	ENSP00000490811.1:n.1535-256_1535-255insCT
ENST00000636886.1:c.1289-256_1289-255insCT	ENSP00000490371.1:n.1289-256_1289-255insCT
ENST00000637206.1:c.1310-256_1310-255insCT	ENSP00000489895.1:n.1310-256_1310-255insCT
ENST00000637272.1:c.1481-256_1481-255insCT	ENSP00000489686.1:n.1481-256_1481-255insCT
ENST00000637292.1:c.946-256_946-255insCT
ENST00000637782.1:c.1490-256_1490-255insCT	ENSP00000490024.1:n.1490-256_1490-255insCT
ENST00000638008.1:c.*1334-256_*1334-255insCT	ENSP00000490400.1:n.*1334-256_*1334-255insCT
ENST00000638010.1:n.1436-256_1436-255insCT
ENST00000409134.7:c.1490-256_1490-255insCT	ENSP00000387123.3:n.1490-256_1490-255insCT
ENST00000447989.6:c.1379-256_1379-255insCT	ENSP00000414132.2:n.1379-256_1379-255insCT
ENST00000485852.6:n.237-256_237-255insCT
ENST00000497231.6:n.1700-256_1700-255insCT
ENST00000553117.5:c.1298-256_1298-255insCT	ENSP00000448593.1:n.1298-256_1298-255insCT
NM_001182.4:c.1490-256_1490-255insCT	NP_001173.2:n.1490-256_1490-255insCT
NM_001201377.1:c.1406-256_1406-255insCT	NP_001188306.1:n.1406-256_1406-255insCT
NM_001202404.1:c.1379-256_1379-255insCT	NP_001189333.1:n.1379-256_1379-255insCT
XM_011543417.1:c.1085-256_1085-255insCT	XP_011541719.1:n.1085-256_1085-255insCT
XM_011543417.2:c.1085-256_1085-255insCT	XP_011541719.1:n.1085-256_1085-255insCT
NM_001182.5:c.1490-256_1490-255insCT MANE Select	NP_001173.2:n.1490-256_1490-255insCT
NM_001201377.2:c.1406-256_1406-255insCT	NP_001188306.1:n.1406-256_1406-255insCT
NM_001202404.2:c.1298-256_1298-255insCT	NP_001189333.2:n.1298-256_1298-255insCT