Canonical Allele Identifier: CA6079892

Gene: PYGM

Linked Data

• dbSNP Id: rs766071180
• ExAC: 11:64521018 A / ATGCGCGCCACGCCGTTGACGGCG
• gnomAD v2: 11-64521018-A-ATGCGCGCCACGCCGTTGACGGCG
• MyVariant Identifiers: chr11:g.64521018_64521019insTGCGCGCCACGCCGTTGACGGCG (hg19) ; chr11:g.64753546_64753547insTGCGCGCCACGCCGTTGACGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753551_64753573dup , CM000673.2:g.64753551_64753573dup	GRCh38
NC_000011.9:g.64521023_64521045dup , CM000673.1:g.64521023_64521045dup	GRCh37
NC_000011.8:g.64277599_64277621dup	NCBI36
NG_013018.1:g.12147_12169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1353_1375dup MANE Select	ENSP00000164139.3:p.Ile459ThrfsTer?
ENST00000164139.3:c.1353_1375dup	ENSP00000164139.3:p.Ile459ThrfsTer?
ENST00000377432.7:c.1089_1111dup	ENSP00000366650.3:p.Ile371ThrfsTer?
NM_001164716.1:c.1089_1111dup	NP_001158188.1:p.Ile371ThrfsTer?
NM_005609.2:c.1353_1375dup	NP_005600.1:p.Ile459ThrfsTer?
NM_005609.3:c.1353_1375dup	NP_005600.1:p.Ile459ThrfsTer?
NM_005609.4:c.1353_1375dup MANE Select	NP_005600.1:p.Ile459ThrfsTer?