Canonical Allele Identifier: CA2575740369
Gene: ALDH1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010573_58010595del , CM000677.2:g.58010573_58010595del GRCh38
NC_000015.9:g.58302771_58302793del , CM000677.1:g.58302771_58302793del GRCh37
NC_000015.8:g.56090063_56090085del NCBI36
NG_012259.1:g.60116_60138del

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.493+56_493+78del MANE Select ENSP00000249750.4:n.493+56_493+78del
ENST00000249750.8:c.493+56_493+78del ENSP00000249750.4:n.493+56_493+78del
ENST00000347587.7:c.493+56_493+78del ENSP00000309623.3:n.493+56_493+78del
ENST00000430119.6:c.*467+56_*467+78del ENSP00000416754.2:n.*467+56_*467+78del
ENST00000537372.5:c.430+56_430+78del ENSP00000438296.1:n.430+56_430+78del
ENST00000558231.5:c.406+56_406+78del ENSP00000453600.1:n.406+56_406+78del
ENST00000559266.5:n.318+3265_318+3287del
ENST00000559517.5:c.205+56_205+78del ENSP00000453408.1:n.205+56_205+78del
ENST00000561070.5:c.205+56_205+78del ENSP00000452850.1:n.205+56_205+78del
NM_001206897.1:c.430+56_430+78del NP_001193826.1:n.430+56_430+78del
NM_003888.3:c.493+56_493+78del NP_003879.2:n.493+56_493+78del
NM_170696.2:c.493+56_493+78del NP_733797.1:n.493+56_493+78del
NM_170697.2:c.205+56_205+78del NP_733798.1:n.205+56_205+78del
XM_024450095.1:c.493+56_493+78del XP_024305863.1:n.493+56_493+78del
NM_003888.4:c.493+56_493+78del MANE Select NP_003879.2:n.493+56_493+78del
NM_170696.3:c.493+56_493+78del NP_733797.1:n.493+56_493+78del
NM_170697.3:c.205+56_205+78del NP_733798.1:n.205+56_205+78del
NM_001206897.2:c.430+56_430+78del NP_001193826.1:n.430+56_430+78del