Canonical Allele Identifier: CA1978919559

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752813_64752814delinsAC , CM000673.2:g.64752813_64752814delinsAC	GRCh38
NC_000011.9:g.64520285_64520286delinsAC , CM000673.1:g.64520285_64520286delinsAC	GRCh37
NC_000011.8:g.64276861_64276862delinsAC	NCBI36
NG_013018.1:g.12902_12903delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1518+259_1518+260delinsGT MANE Select	ENSP00000164139.3:n.1518+259_1518+260delinsGT
ENST00000164139.3:c.1518+259_1518+260delinsGT	ENSP00000164139.3:n.1518+259_1518+260delinsGT
ENST00000377432.7:c.1254+259_1254+260delinsGT	ENSP00000366650.3:n.1254+259_1254+260delinsGT
NM_001164716.1:c.1254+259_1254+260delinsGT	NP_001158188.1:n.1254+259_1254+260delinsGT
NM_005609.2:c.1518+259_1518+260delinsGT	NP_005600.1:n.1518+259_1518+260delinsGT
NM_005609.3:c.1518+259_1518+260delinsGT	NP_005600.1:n.1518+259_1518+260delinsGT
NM_005609.4:c.1518+259_1518+260delinsGT MANE Select	NP_005600.1:n.1518+259_1518+260delinsGT