Canonical Allele Identifier: CA2614199282
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64746980-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746983dup , CM000673.2:g.64746983dup GRCh38
NC_000011.9:g.64514455dup , CM000673.1:g.64514455dup GRCh37
NC_000011.8:g.64271031dup NCBI36
NG_007574.1:g.3476dup , LRG_100:g.3476dup
NG_013018.1:g.18735dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2319dup MANE Select ENSP00000164139.3:p.Val774SerfsTer6
ENST00000164139.3:c.2319dup ENSP00000164139.3:p.Val774SerfsTer6
ENST00000377432.7:c.2055dup ENSP00000366650.3:p.Val686SerfsTer6
ENST00000483742.1:n.1672dup
NM_001164716.1:c.2055dup NP_001158188.1:p.Val686SerfsTer6
NM_005609.2:c.2319dup NP_005600.1:p.Val774SerfsTer6
NM_005609.3:c.2319dup NP_005600.1:p.Val774SerfsTer6
NM_005609.4:c.2319dup MANE Select NP_005600.1:p.Val774SerfsTer6
Search 100 bp 5'
Search 100 bp 3'