Canonical Allele Identifier: CA6080415

Gene: PYGM

Linked Data

• dbSNP Id: rs776237559
• ExAC: 11:64527414 C / CG
• gnomAD v2: 11-64527414-C-CG
• gnomAD v4: 11-64759942-C-CG
• MyVariant Identifiers: chr11:g.64527414_64527415insG (hg19) ; chr11:g.64759942_64759943insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759944dup , CM000673.2:g.64759944dup	GRCh38
NC_000011.9:g.64527416dup , CM000673.1:g.64527416dup	GRCh37
NC_000011.8:g.64283992dup	NCBI36
NG_013018.1:g.5773dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-45dup MANE Select	ENSP00000164139.3:n.-45dup
ENST00000164139.3:c.-45dup	ENSP00000164139.3:n.-45dup
ENST00000377432.7:c.-45dup	ENSP00000366650.3:n.-45dup
NM_001164716.1:c.-45dup	NP_001158188.1:n.-45dup
NM_005609.2:c.-45dup	NP_005600.1:n.-45dup
NM_005609.3:c.-45dup	NP_005600.1:n.-45dup
NM_005609.4:c.-45dup MANE Select	NP_005600.1:n.-45dup