Canonical Allele Identifier: CA1978919262

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747291_64747305delinsCACTGCTCAGCTGCT , CM000673.2:g.64747291_64747305delinsCACTGCTCAGCTGCT	GRCh38
NC_000011.9:g.64514763_64514777delinsCACTGCTCAGCTGCT , CM000673.1:g.64514763_64514777delinsCACTGCTCAGCTGCT	GRCh37
NC_000011.8:g.64271339_64271353delinsCACTGCTCAGCTGCT	NCBI36
NG_007574.1:g.3152_3166delinsAGCAGCTGAGCAGTG , LRG_100:g.3152_3166delinsAGCAGCTGAGCAGTG
NG_013018.1:g.18411_18425delinsAGCAGCTGAGCAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2231_2245delinsAGCAGCTGAGCAGTG MANE Select	ENSP00000164139.3:p.Glu744=
ENST00000164139.3:c.2231_2245delinsAGCAGCTGAGCAGTG	ENSP00000164139.3:p.Glu744=
ENST00000377432.7:c.1967_1981delinsAGCAGCTGAGCAGTG	ENSP00000366650.3:p.Glu656=
ENST00000483742.1:n.1584_1598delinsAGCAGCTGAGCAGTG
NM_001164716.1:c.1967_1981delinsAGCAGCTGAGCAGTG	NP_001158188.1:p.Glu656=
NM_005609.2:c.2231_2245delinsAGCAGCTGAGCAGTG	NP_005600.1:p.Glu744=
NM_005609.3:c.2231_2245delinsAGCAGCTGAGCAGTG	NP_005600.1:p.Glu744=
NM_005609.4:c.2231_2245delinsAGCAGCTGAGCAGTG MANE Select	NP_005600.1:p.Glu744=