Canonical Allele Identifier: CA803486913

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1184533239
• gnomAD v4: 5-126544668-A-AT
• MyVariant Identifiers: chr5:g.125880360_125880361insT (hg19) ; chr5:g.126544668_126544669insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544675dup , CM000667.2:g.126544675dup	GRCh38
NC_000005.9:g.125880367dup , CM000667.1:g.125880367dup	GRCh37
NC_000005.8:g.125908266dup	NCBI36
NG_008600.2:g.55722dup
NG_008600.3:g.55722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*296dup MANE Select	ENSP00000387123.3:n.*296dup
ENST00000635851.1:c.1563+1655dup
ENST00000636743.1:c.*296dup	ENSP00000489725.1:n.*296dup
ENST00000636808.1:c.*1725dup	ENSP00000490833.1:n.*1725dup
ENST00000636872.1:c.2076dup	ENSP00000490919.1:n.2076dup
ENST00000636879.1:c.*296dup	ENSP00000490811.1:n.*296dup
ENST00000636886.1:c.*296dup	ENSP00000490371.1:n.*296dup
ENST00000637206.1:c.*296dup	ENSP00000489895.1:n.*296dup
ENST00000637272.1:c.*296dup	ENSP00000489686.1:n.*296dup
ENST00000637782.1:c.1565+1655dup	ENSP00000490024.1:n.1565+1655dup
ENST00000409134.7:c.*296dup	ENSP00000387123.3:n.*296dup
ENST00000447989.6:c.*296dup	ENSP00000414132.2:n.*296dup
ENST00000553117.5:c.*296dup	ENSP00000448593.1:n.*296dup
NM_001182.4:c.*296dup	NP_001173.2:n.*296dup
NM_001201377.1:c.*296dup	NP_001188306.1:n.*296dup
NM_001202404.1:c.*296dup	NP_001189333.1:n.*296dup
XM_011543417.2:c.*296dup	XP_011541719.1:n.*296dup
NM_001182.5:c.*296dup MANE Select	NP_001173.2:n.*296dup
NM_001201377.2:c.*296dup	NP_001188306.1:n.*296dup
NM_001202404.2:c.*296dup	NP_001189333.2:n.*296dup