Canonical Allele Identifier: CA7429979
Gene: MAGEL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23645753del , CM000677.2:g.23645753del GRCh38
NC_000015.9:g.23890900del , CM000677.1:g.23890900del GRCh37
NC_000015.8:g.21441993del NCBI36
NG_016776.1:g.7100del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.1996del MANE Select ENSP00000497810.1:p.Gln666SerfsTer?
ENST00000532292.2:c.1996del ENSP00000433433.2:p.Gln666SerfsTer?
NM_019066.4:c.1996del NP_061939.3:p.Gln666SerfsTer?
NM_019066.5:c.1996del MANE Select NP_061939.3:p.Gln666SerfsTer?
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