Canonical Allele Identifier: CA1978920842

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753441_64753444delinsAGGG , CM000673.2:g.64753441_64753444delinsAGGG	GRCh38
NC_000011.9:g.64520913_64520916delinsAGGG , CM000673.1:g.64520913_64520916delinsAGGG	GRCh37
NC_000011.8:g.64277489_64277492delinsAGGG	NCBI36
NG_013018.1:g.12272_12275delinsCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+75_1403+78delinsCCCT MANE Select	ENSP00000164139.3:n.1403+75_1403+78delinsCCCT
ENST00000164139.3:c.1403+75_1403+78delinsCCCT	ENSP00000164139.3:n.1403+75_1403+78delinsCCCT
ENST00000377432.7:c.1139+75_1139+78delinsCCCT	ENSP00000366650.3:n.1139+75_1139+78delinsCCCT
NM_001164716.1:c.1139+75_1139+78delinsCCCT	NP_001158188.1:n.1139+75_1139+78delinsCCCT
NM_005609.2:c.1403+75_1403+78delinsCCCT	NP_005600.1:n.1403+75_1403+78delinsCCCT
NM_005609.3:c.1403+75_1403+78delinsCCCT	NP_005600.1:n.1403+75_1403+78delinsCCCT
NM_005609.4:c.1403+75_1403+78delinsCCCT MANE Select	NP_005600.1:n.1403+75_1403+78delinsCCCT