Canonical Allele Identifier: CA271343875

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs200214704
• gnomAD v2: 15-58279443-CA-C
• gnomAD v3: 15-57987245-CA-C
• gnomAD v4: 15-57987245-CA-C
• MyVariant Identifiers: chr15:g.58279444del (hg19) ; chr15:g.57987246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.57987255del , CM000677.2:g.57987255del	GRCh38
NC_000015.9:g.58279453del , CM000677.1:g.58279453del	GRCh37
NC_000015.8:g.56066745del	NCBI36
NG_012259.1:g.83463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249750.9:c.798+5459del MANE Select	ENSP00000249750.4:n.798+5459del
ENST00000249750.8:c.798+5459del	ENSP00000249750.4:n.798+5459del
ENST00000347587.7:c.684+5699del	ENSP00000309623.3:n.684+5699del
ENST00000430119.6:c.*772+5459del	ENSP00000416754.2:n.*772+5459del
ENST00000537372.5:c.735+5459del	ENSP00000438296.1:n.735+5459del
ENST00000558231.5:c.711+5459del	ENSP00000453600.1:n.711+5459del
ENST00000559517.5:c.510+5459del	ENSP00000453408.1:n.510+5459del
NM_001206897.1:c.735+5459del	NP_001193826.1:n.735+5459del
NM_003888.3:c.798+5459del	NP_003879.2:n.798+5459del
NM_170696.2:c.684+5699del	NP_733797.1:n.684+5699del
NM_170697.2:c.510+5459del	NP_733798.1:n.510+5459del
NM_003888.4:c.798+5459del MANE Select	NP_003879.2:n.798+5459del
NM_170696.3:c.684+5699del	NP_733797.1:n.684+5699del
NM_170697.3:c.510+5459del	NP_733798.1:n.510+5459del
NM_001206897.2:c.735+5459del	NP_001193826.1:n.735+5459del