Canonical Allele Identifier: CA2180113888
Gene: ALDH1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010521_58010522delinsAC , CM000677.2:g.58010521_58010522delinsAC GRCh38
NC_000015.9:g.58302719_58302720delinsAC , CM000677.1:g.58302719_58302720delinsAC GRCh37
NC_000015.8:g.56090011_56090012delinsAC NCBI36
NG_012259.1:g.60187_60188delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.493+127_493+128delinsGT MANE Select ENSP00000249750.4:n.493+127_493+128delinsGT
ENST00000249750.8:c.493+127_493+128delinsGT ENSP00000249750.4:n.493+127_493+128delinsGT
ENST00000347587.7:c.493+127_493+128delinsGT ENSP00000309623.3:n.493+127_493+128delinsGT
ENST00000430119.6:c.*467+127_*467+128delinsGT ENSP00000416754.2:n.*467+127_*467+128delinsGT
ENST00000537372.5:c.430+127_430+128delinsGT ENSP00000438296.1:n.430+127_430+128delinsGT
ENST00000558231.5:c.406+127_406+128delinsGT ENSP00000453600.1:n.406+127_406+128delinsGT
ENST00000559266.5:n.318+3336_318+3337delinsGT
ENST00000559517.5:c.205+127_205+128delinsGT ENSP00000453408.1:n.205+127_205+128delinsGT
ENST00000561070.5:c.205+127_205+128delinsGT ENSP00000452850.1:n.205+127_205+128delinsGT
NM_001206897.1:c.430+127_430+128delinsGT NP_001193826.1:n.430+127_430+128delinsGT
NM_003888.3:c.493+127_493+128delinsGT NP_003879.2:n.493+127_493+128delinsGT
NM_170696.2:c.493+127_493+128delinsGT NP_733797.1:n.493+127_493+128delinsGT
NM_170697.2:c.205+127_205+128delinsGT NP_733798.1:n.205+127_205+128delinsGT
XM_024450095.1:c.493+127_493+128delinsGT XP_024305863.1:n.493+127_493+128delinsGT
NM_003888.4:c.493+127_493+128delinsGT MANE Select NP_003879.2:n.493+127_493+128delinsGT
NM_170696.3:c.493+127_493+128delinsGT NP_733797.1:n.493+127_493+128delinsGT
NM_170697.3:c.205+127_205+128delinsGT NP_733798.1:n.205+127_205+128delinsGT
NM_001206897.2:c.430+127_430+128delinsGT NP_001193826.1:n.430+127_430+128delinsGT