Canonical Allele Identifier: CA2614192115

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759942-C-CTGATGGTAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759942_64759943insTGATGGTAGA , CM000673.2:g.64759942_64759943insTGATGGTAGA	GRCh38
NC_000011.9:g.64527414_64527415insTGATGGTAGA , CM000673.1:g.64527414_64527415insTGATGGTAGA	GRCh37
NC_000011.8:g.64283990_64283991insTGATGGTAGA	NCBI36
NG_013018.1:g.5773_5774insTCTACCATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-45_-44insTCTACCATCA MANE Select	ENSP00000164139.3:n.-45_-44insTCTACCATCA
ENST00000164139.3:c.-45_-44insTCTACCATCA	ENSP00000164139.3:n.-45_-44insTCTACCATCA
ENST00000377432.7:c.-45_-44insTCTACCATCA	ENSP00000366650.3:n.-45_-44insTCTACCATCA
NM_001164716.1:c.-45_-44insTCTACCATCA	NP_001158188.1:n.-45_-44insTCTACCATCA
NM_005609.2:c.-45_-44insTCTACCATCA	NP_005600.1:n.-45_-44insTCTACCATCA
NM_005609.3:c.-45_-44insTCTACCATCA	NP_005600.1:n.-45_-44insTCTACCATCA
NM_005609.4:c.-45_-44insTCTACCATCA MANE Select	NP_005600.1:n.-45_-44insTCTACCATCA