Canonical Allele Identifier: CA562231060

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 1250502
• ClinVar RCV Id: RCV001652752
• dbSNP Id: rs10630162
• gnomAD v2: 5-125882343-T-TA
• gnomAD v3: 5-126546651-T-TA
• gnomAD v4: 5-126546651-T-TA
• MyVariant Identifiers: chr5:g.125882345_125882346insA (hg19) ; chr5:g.125882343_125882344insA (hg19) ; chr5:g.126546653_126546654insA (hg38) ; chr5:g.126546651_126546652insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546666dup , CM000667.2:g.126546666dup	GRCh38
NC_000005.9:g.125882358dup , CM000667.1:g.125882358dup	GRCh37
NC_000005.8:g.125910257dup	NCBI36
NG_008600.2:g.53739dup
NG_008600.3:g.53739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-253dup MANE Select	ENSP00000387123.3:n.1490-253dup
ENST00000458249.6:c.*1399-253dup	ENSP00000403929.1:n.*1399-253dup
ENST00000485852.7:n.237-253dup
ENST00000497231.7:n.1917-253dup
ENST00000635851.1:c.1488-253dup
ENST00000636225.1:c.*1434-253dup	ENSP00000490797.1:n.*1434-253dup
ENST00000636286.1:n.1255-253dup
ENST00000636482.1:n.1024-253dup
ENST00000636743.1:c.1370-253dup	ENSP00000489725.1:n.1370-253dup
ENST00000636808.1:c.*1299-253dup	ENSP00000490833.1:n.*1299-253dup
ENST00000636872.1:c.1650-253dup	ENSP00000490919.1:n.1650-253dup
ENST00000636879.1:c.1535-253dup	ENSP00000490811.1:n.1535-253dup
ENST00000636886.1:c.1289-253dup	ENSP00000490371.1:n.1289-253dup
ENST00000637206.1:c.1310-253dup	ENSP00000489895.1:n.1310-253dup
ENST00000637272.1:c.1481-253dup	ENSP00000489686.1:n.1481-253dup
ENST00000637292.1:c.946-253dup
ENST00000637782.1:c.1490-253dup	ENSP00000490024.1:n.1490-253dup
ENST00000638008.1:c.*1334-253dup	ENSP00000490400.1:n.*1334-253dup
ENST00000638010.1:n.1436-253dup
ENST00000409134.7:c.1490-253dup	ENSP00000387123.3:n.1490-253dup
ENST00000447989.6:c.1379-253dup	ENSP00000414132.2:n.1379-253dup
ENST00000485852.6:n.237-253dup
ENST00000497231.6:n.1700-253dup
ENST00000553117.5:c.1298-253dup	ENSP00000448593.1:n.1298-253dup
NM_001182.4:c.1490-253dup	NP_001173.2:n.1490-253dup
NM_001201377.1:c.1406-253dup	NP_001188306.1:n.1406-253dup
NM_001202404.1:c.1379-253dup	NP_001189333.1:n.1379-253dup
XM_011543417.1:c.1085-253dup	XP_011541719.1:n.1085-253dup
XM_011543417.2:c.1085-253dup	XP_011541719.1:n.1085-253dup
NM_001182.5:c.1490-253dup MANE Select	NP_001173.2:n.1490-253dup
NM_001201377.2:c.1406-253dup	NP_001188306.1:n.1406-253dup
NM_001202404.2:c.1298-253dup	NP_001189333.2:n.1298-253dup