Canonical Allele Identifier: CA2180113667
Gene: ALDH1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010301_58010302delinsCT , CM000677.2:g.58010301_58010302delinsCT GRCh38
NC_000015.9:g.58302499_58302500delinsCT , CM000677.1:g.58302499_58302500delinsCT GRCh37
NC_000015.8:g.56089791_56089792delinsCT NCBI36
NG_012259.1:g.60407_60408delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.493+347_493+348delinsAG MANE Select ENSP00000249750.4:n.493+347_493+348delinsAG
ENST00000249750.8:c.493+347_493+348delinsAG ENSP00000249750.4:n.493+347_493+348delinsAG
ENST00000347587.7:c.493+347_493+348delinsAG ENSP00000309623.3:n.493+347_493+348delinsAG
ENST00000430119.6:c.*467+347_*467+348delinsAG ENSP00000416754.2:n.*467+347_*467+348delinsAG
ENST00000537372.5:c.430+347_430+348delinsAG ENSP00000438296.1:n.430+347_430+348delinsAG
ENST00000558231.5:c.406+347_406+348delinsAG ENSP00000453600.1:n.406+347_406+348delinsAG
ENST00000559266.5:n.318+3556_318+3557delinsAG
ENST00000559517.5:c.205+347_205+348delinsAG ENSP00000453408.1:n.205+347_205+348delinsAG
ENST00000561070.5:c.205+347_205+348delinsAG ENSP00000452850.1:n.205+347_205+348delinsAG
NM_001206897.1:c.430+347_430+348delinsAG NP_001193826.1:n.430+347_430+348delinsAG
NM_003888.3:c.493+347_493+348delinsAG NP_003879.2:n.493+347_493+348delinsAG
NM_170696.2:c.493+347_493+348delinsAG NP_733797.1:n.493+347_493+348delinsAG
NM_170697.2:c.205+347_205+348delinsAG NP_733798.1:n.205+347_205+348delinsAG
XM_024450095.1:c.493+347_493+348delinsAG XP_024305863.1:n.493+347_493+348delinsAG
NM_003888.4:c.493+347_493+348delinsAG MANE Select NP_003879.2:n.493+347_493+348delinsAG
NM_170696.3:c.493+347_493+348delinsAG NP_733797.1:n.493+347_493+348delinsAG
NM_170697.3:c.205+347_205+348delinsAG NP_733798.1:n.205+347_205+348delinsAG
NM_001206897.2:c.430+347_430+348delinsAG NP_001193826.1:n.430+347_430+348delinsAG