Canonical Allele Identifier: CA2598077015
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759940_64759944dup , CM000673.2:g.64759940_64759944dup GRCh38
NC_000011.9:g.64527412_64527416dup , CM000673.1:g.64527412_64527416dup GRCh37
NC_000011.8:g.64283988_64283992dup NCBI36
NG_013018.1:g.5774_5778dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-44_-40dup MANE Select ENSP00000164139.3:n.-44_-40dup
ENST00000164139.3:c.-44_-40dup ENSP00000164139.3:n.-44_-40dup
ENST00000377432.7:c.-44_-40dup ENSP00000366650.3:n.-44_-40dup
NM_001164716.1:c.-44_-40dup NP_001158188.1:n.-44_-40dup
NM_005609.2:c.-44_-40dup NP_005600.1:n.-44_-40dup
NM_005609.3:c.-44_-40dup NP_005600.1:n.-44_-40dup
NM_005609.4:c.-44_-40dup MANE Select NP_005600.1:n.-44_-40dup