Canonical Allele Identifier: CA18792508

Gene: ALDH4A1

Linked Data

• dbSNP Id: rs974305071
• MyVariant Identifiers: chr1:g.19228694_19228695insCACCC (hg19) ; chr1:g.18902200_18902201insCACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18902201_18902205dup , CM000663.2:g.18902201_18902205dup	GRCh38
NC_000001.10:g.19228695_19228699dup , CM000663.1:g.19228695_19228699dup	GRCh37
NC_000001.9:g.19101282_19101286dup	NCBI36
NG_012283.1:g.5595_5599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.62+257_62+261dup MANE Select	ENSP00000364490.3:n.62+257_62+261dup
ENST00000290597.9:c.62+257_62+261dup	ENSP00000290597.5:n.62+257_62+261dup
ENST00000375341.7:c.62+257_62+261dup	ENSP00000364490.3:n.62+257_62+261dup
ENST00000432718.1:c.62+257_62+261dup	ENSP00000393209.1:n.62+257_62+261dup
ENST00000494072.3:c.911+6334_911+6338dup
ENST00000538839.5:c.62+257_62+261dup	ENSP00000446071.1:n.62+257_62+261dup
NM_003748.3:c.62+257_62+261dup	NP_003739.2:n.62+257_62+261dup
NM_170726.2:c.62+257_62+261dup	NP_733844.1:n.62+257_62+261dup
XM_011542352.1:c.62+257_62+261dup	XP_011540654.1:n.62+257_62+261dup
XM_011542353.1:c.62+257_62+261dup	XP_011540655.1:n.62+257_62+261dup
XR_946786.1:n.119+257_119+261dup
NM_001319218.1:c.62+257_62+261dup	NP_001306147.1:n.62+257_62+261dup
XR_001737510.1:n.119+257_119+261dup
NM_003748.4:c.62+257_62+261dup MANE Select	NP_003739.2:n.62+257_62+261dup
NM_170726.3:c.62+257_62+261dup	NP_733844.1:n.62+257_62+261dup
NM_001319218.2:c.62+257_62+261dup	NP_001306147.1:n.62+257_62+261dup