Canonical Allele Identifier: CA2840998473
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747350del , CM000673.2:g.64747350del GRCh38
NC_000011.9:g.64514822del , CM000673.1:g.64514822del GRCh37
NC_000011.8:g.64271398del NCBI36
NG_007574.1:g.3109del , LRG_100:g.3109del
NG_013018.1:g.18368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2188del MANE Select ENSP00000164139.3:p.Gln730ArgfsTer17
ENST00000164139.3:c.2188del ENSP00000164139.3:p.Gln730ArgfsTer17
ENST00000377432.7:c.1924del ENSP00000366650.3:p.Gln642ArgfsTer17
ENST00000483742.1:n.1541del
NM_001164716.1:c.1924del NP_001158188.1:p.Gln642ArgfsTer17
NM_005609.2:c.2188del NP_005600.1:p.Gln730ArgfsTer17
NM_005609.3:c.2188del NP_005600.1:p.Gln730ArgfsTer17
NM_005609.4:c.2188del MANE Select NP_005600.1:p.Gln730ArgfsTer17
Search 100 bp 5'
Search 100 bp 3'