Canonical Allele Identifier: CA1978915933

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751345_64751346delinsCG , CM000673.2:g.64751345_64751346delinsCG	GRCh38
NC_000011.9:g.64518817_64518818delinsCG , CM000673.1:g.64518817_64518818delinsCG	GRCh37
NC_000011.8:g.64275393_64275394delinsCG	NCBI36
NG_013018.1:g.14370_14371delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1948_1949delinsCG MANE Select	ENSP00000164139.3:p.Arg650=
ENST00000164139.3:c.1948_1949delinsCG	ENSP00000164139.3:p.Arg650=
ENST00000377432.7:c.1684_1685delinsCG	ENSP00000366650.3:p.Arg562=
ENST00000462303.1:n.272_273delinsCG
NM_001164716.1:c.1684_1685delinsCG	NP_001158188.1:p.Arg562=
NM_005609.2:c.1948_1949delinsCG	NP_005600.1:p.Arg650=
NM_005609.3:c.1948_1949delinsCG	NP_005600.1:p.Arg650=
NM_005609.4:c.1948_1949delinsCG MANE Select	NP_005600.1:p.Arg650=