Canonical Allele Identifier: CA1978921107

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753546_64753569delinsATGCGCGCCACGCCGTTGACGGCG , CM000673.2:g.64753546_64753569delinsATGCGCGCCACGCCGTTGACGGCG	GRCh38
NC_000011.9:g.64521018_64521041delinsATGCGCGCCACGCCGTTGACGGCG , CM000673.1:g.64521018_64521041delinsATGCGCGCCACGCCGTTGACGGCG	GRCh37
NC_000011.8:g.64277594_64277617delinsATGCGCGCCACGCCGTTGACGGCG	NCBI36
NG_013018.1:g.12147_12170delinsCGCCGTCAACGGCGTGGCGCGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1353_1376delinsCGCCGTCAACGGCGTGGCGCGCAT MANE Select	ENSP00000164139.3:p.His451=
ENST00000164139.3:c.1353_1376delinsCGCCGTCAACGGCGTGGCGCGCAT	ENSP00000164139.3:p.His451=
ENST00000377432.7:c.1089_1112delinsCGCCGTCAACGGCGTGGCGCGCAT	ENSP00000366650.3:p.His363=
NM_001164716.1:c.1089_1112delinsCGCCGTCAACGGCGTGGCGCGCAT	NP_001158188.1:p.His363=
NM_005609.2:c.1353_1376delinsCGCCGTCAACGGCGTGGCGCGCAT	NP_005600.1:p.His451=
NM_005609.3:c.1353_1376delinsCGCCGTCAACGGCGTGGCGCGCAT	NP_005600.1:p.His451=
NM_005609.4:c.1353_1376delinsCGCCGTCAACGGCGTGGCGCGCAT MANE Select	NP_005600.1:p.His451=