Canonical Allele Identifier: CA2180113805

Gene: ALDH1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010448_58010458delinsCTGTACTTATA , CM000677.2:g.58010448_58010458delinsCTGTACTTATA	GRCh38
NC_000015.9:g.58302646_58302656delinsCTGTACTTATA , CM000677.1:g.58302646_58302656delinsCTGTACTTATA	GRCh37
NC_000015.8:g.56089938_56089948delinsCTGTACTTATA	NCBI36
NG_012259.1:g.60251_60261delinsTATAAGTACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249750.9:c.493+191_493+201delinsTATAAGTACAG MANE Select	ENSP00000249750.4:n.493+191_493+201delinsTATAAGTACAG
ENST00000249750.8:c.493+191_493+201delinsTATAAGTACAG	ENSP00000249750.4:n.493+191_493+201delinsTATAAGTACAG
ENST00000347587.7:c.493+191_493+201delinsTATAAGTACAG	ENSP00000309623.3:n.493+191_493+201delinsTATAAGTACAG
ENST00000430119.6:c.*467+191_*467+201delinsTATAAGTACAG	ENSP00000416754.2:n.*467+191_*467+201delinsTATAAGTACAG
ENST00000537372.5:c.430+191_430+201delinsTATAAGTACAG	ENSP00000438296.1:n.430+191_430+201delinsTATAAGTACAG
ENST00000558231.5:c.406+191_406+201delinsTATAAGTACAG	ENSP00000453600.1:n.406+191_406+201delinsTATAAGTACAG
ENST00000559266.5:n.318+3400_318+3410delinsTATAAGTACAG
ENST00000559517.5:c.205+191_205+201delinsTATAAGTACAG	ENSP00000453408.1:n.205+191_205+201delinsTATAAGTACAG
ENST00000561070.5:c.205+191_205+201delinsTATAAGTACAG	ENSP00000452850.1:n.205+191_205+201delinsTATAAGTACAG
NM_001206897.1:c.430+191_430+201delinsTATAAGTACAG	NP_001193826.1:n.430+191_430+201delinsTATAAGTACAG
NM_003888.3:c.493+191_493+201delinsTATAAGTACAG	NP_003879.2:n.493+191_493+201delinsTATAAGTACAG
NM_170696.2:c.493+191_493+201delinsTATAAGTACAG	NP_733797.1:n.493+191_493+201delinsTATAAGTACAG
NM_170697.2:c.205+191_205+201delinsTATAAGTACAG	NP_733798.1:n.205+191_205+201delinsTATAAGTACAG
XM_024450095.1:c.493+191_493+201delinsTATAAGTACAG	XP_024305863.1:n.493+191_493+201delinsTATAAGTACAG
NM_003888.4:c.493+191_493+201delinsTATAAGTACAG MANE Select	NP_003879.2:n.493+191_493+201delinsTATAAGTACAG
NM_170696.3:c.493+191_493+201delinsTATAAGTACAG	NP_733797.1:n.493+191_493+201delinsTATAAGTACAG
NM_170697.3:c.205+191_205+201delinsTATAAGTACAG	NP_733798.1:n.205+191_205+201delinsTATAAGTACAG
NM_001206897.2:c.430+191_430+201delinsTATAAGTACAG	NP_001193826.1:n.430+191_430+201delinsTATAAGTACAG