Canonical Allele Identifier: CA6080407

Gene: PYGM

Linked Data

• dbSNP Id: rs746838836
• ExAC: 11:64527402 T / TGGTAGAGGGGAC
• gnomAD v2: 11-64527402-T-TGGTAGAGGGGAC
• gnomAD v3: 11-64759930-T-TGGTAGAGGGGAC
• gnomAD v4: 11-64759930-T-TGGTAGAGGGGAC
• MyVariant Identifiers: chr11:g.64527402_64527403insGGTAGAGGGGAC (hg19) ; chr11:g.64759930_64759931insGGTAGAGGGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759933_64759944dup , CM000673.2:g.64759933_64759944dup	GRCh38
NC_000011.9:g.64527405_64527416dup , CM000673.1:g.64527405_64527416dup	GRCh37
NC_000011.8:g.64283981_64283992dup	NCBI36
NG_013018.1:g.5774_5785dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-44_-33dup MANE Select	ENSP00000164139.3:n.-44_-33dup
ENST00000164139.3:c.-44_-33dup	ENSP00000164139.3:n.-44_-33dup
ENST00000377432.7:c.-44_-33dup	ENSP00000366650.3:n.-44_-33dup
NM_001164716.1:c.-44_-33dup	NP_001158188.1:n.-44_-33dup
NM_005609.2:c.-44_-33dup	NP_005600.1:n.-44_-33dup
NM_005609.3:c.-44_-33dup	NP_005600.1:n.-44_-33dup
NM_005609.4:c.-44_-33dup MANE Select	NP_005600.1:n.-44_-33dup