Canonical Allele Identifier: CA1978920857

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753445_64753451delinsCGGGGCT , CM000673.2:g.64753445_64753451delinsCGGGGCT	GRCh38
NC_000011.9:g.64520917_64520923delinsCGGGGCT , CM000673.1:g.64520917_64520923delinsCGGGGCT	GRCh37
NC_000011.8:g.64277493_64277499delinsCGGGGCT	NCBI36
NG_013018.1:g.12265_12271delinsAGCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+68_1403+74delinsAGCCCCG MANE Select	ENSP00000164139.3:n.1403+68_1403+74delinsAGCCCCG
ENST00000164139.3:c.1403+68_1403+74delinsAGCCCCG	ENSP00000164139.3:n.1403+68_1403+74delinsAGCCCCG
ENST00000377432.7:c.1139+68_1139+74delinsAGCCCCG	ENSP00000366650.3:n.1139+68_1139+74delinsAGCCCCG
NM_001164716.1:c.1139+68_1139+74delinsAGCCCCG	NP_001158188.1:n.1139+68_1139+74delinsAGCCCCG
NM_005609.2:c.1403+68_1403+74delinsAGCCCCG	NP_005600.1:n.1403+68_1403+74delinsAGCCCCG
NM_005609.3:c.1403+68_1403+74delinsAGCCCCG	NP_005600.1:n.1403+68_1403+74delinsAGCCCCG
NM_005609.4:c.1403+68_1403+74delinsAGCCCCG MANE Select	NP_005600.1:n.1403+68_1403+74delinsAGCCCCG