Canonical Allele Identifier: CA6080236
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1440473
ClinVar RCV Id: RCV001950413
dbSNP Id: rs764823441
ExAC: 11:64525734 ATCT / A
gnomAD v2: 11-64525734-ATCT-A
gnomAD v3: 11-64758262-ATCT-A
gnomAD v4: 11-64758262-ATCT-A
MyVariant Identifiers: chr11:g.64525735_64525737del (hg19) chr11:g.64758264_64758266del (hg38) chr11:g.64758263_64758265del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758266_64758268del , CM000673.2:g.64758266_64758268del GRCh38
NC_000011.9:g.64525738_64525740del , CM000673.1:g.64525738_64525740del GRCh37
NC_000011.8:g.64282314_64282316del NCBI36
NG_013018.1:g.7451_7453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.509_511del MANE Select ENSP00000164139.3:p.Lys170del
ENST00000164139.3:c.509_511del ENSP00000164139.3:p.Lys170del
ENST00000377432.7:c.245_247del
NM_001164716.1:c.245_247del
NM_005609.2:c.509_511del NP_005600.1:p.Lys170del
NM_005609.3:c.509_511del NP_005600.1:p.Lys170del
NM_005609.4:c.509_511del MANE Select NP_005600.1:p.Lys170del
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