Canonical Allele Identifier: CA2164294905
Gene: MAGEL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644471_23644474delinsTTGA , CM000677.2:g.23644471_23644474delinsTTGA GRCh38
NC_000015.9:g.23889618_23889621delinsTTGA , CM000677.1:g.23889618_23889621delinsTTGA GRCh37
NC_000015.8:g.21440711_21440714delinsTTGA NCBI36
NG_016776.1:g.8373_8376delinsTCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3269_3272delinsTCAA MANE Select ENSP00000497810.1:p.Ile1090=
ENST00000532292.2:c.3269_3272delinsTCAA ENSP00000433433.2:p.Ile1090=
NM_019066.4:c.3269_3272delinsTCAA NP_061939.3:p.Ile1090=
NM_019066.5:c.3269_3272delinsTCAA MANE Select NP_061939.3:p.Ile1090=
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