Canonical Allele Identifier: CA223895038
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs34154523
MyVariant Identifiers: chr11:g.64514950del (hg19) chr11:g.64747478del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747480del , CM000673.2:g.64747480del GRCh38
NC_000011.9:g.64514952del , CM000673.1:g.64514952del GRCh37
NC_000011.8:g.64271528del NCBI36
NG_007574.1:g.2979del , LRG_100:g.2979del
NG_013018.1:g.18238del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-120del MANE Select ENSP00000164139.3:n.2178-120del
ENST00000164139.3:c.2178-120del ENSP00000164139.3:n.2178-120del
ENST00000377432.7:c.1914-120del ENSP00000366650.3:n.1914-120del
ENST00000483742.1:n.1411del
NM_001164716.1:c.1914-120del NP_001158188.1:n.1914-120del
NM_005609.2:c.2178-120del NP_005600.1:n.2178-120del
NM_005609.3:c.2178-120del NP_005600.1:n.2178-120del
NM_005609.4:c.2178-120del MANE Select NP_005600.1:n.2178-120del
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