Canonical Allele Identifier: CA599652728

Gene: PYGM

Linked Data

• dbSNP Id: rs1277998449
• gnomAD v2: 11-64514996-C-CT
• gnomAD v3: 11-64747524-C-CT
• gnomAD v4: 11-64747524-C-CT
• MyVariant Identifiers: chr11:g.64514996_64514997insT (hg19) ; chr11:g.64747524_64747525insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747525dup , CM000673.2:g.64747525dup	GRCh38
NC_000011.9:g.64514997dup , CM000673.1:g.64514997dup	GRCh37
NC_000011.8:g.64271573dup	NCBI36
NG_007574.1:g.2932dup , LRG_100:g.2932dup
NG_013018.1:g.18191dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-167dup MANE Select	ENSP00000164139.3:n.2178-167dup
ENST00000164139.3:c.2178-167dup	ENSP00000164139.3:n.2178-167dup
ENST00000377432.7:c.1914-167dup	ENSP00000366650.3:n.1914-167dup
ENST00000483742.1:n.1364dup
NM_001164716.1:c.1914-167dup	NP_001158188.1:n.1914-167dup
NM_005609.2:c.2178-167dup	NP_005600.1:n.2178-167dup
NM_005609.3:c.2178-167dup	NP_005600.1:n.2178-167dup
NM_005609.4:c.2178-167dup MANE Select	NP_005600.1:n.2178-167dup