Canonical Allele Identifier: CA1978920836

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753441_64753450delinsAGGGCGGGGC , CM000673.2:g.64753441_64753450delinsAGGGCGGGGC	GRCh38
NC_000011.9:g.64520913_64520922delinsAGGGCGGGGC , CM000673.1:g.64520913_64520922delinsAGGGCGGGGC	GRCh37
NC_000011.8:g.64277489_64277498delinsAGGGCGGGGC	NCBI36
NG_013018.1:g.12266_12275delinsGCCCCGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+69_1403+78delinsGCCCCGCCCT MANE Select	ENSP00000164139.3:n.1403+69_1403+78delinsGCCCCGCCCT
ENST00000164139.3:c.1403+69_1403+78delinsGCCCCGCCCT	ENSP00000164139.3:n.1403+69_1403+78delinsGCCCCGCCCT
ENST00000377432.7:c.1139+69_1139+78delinsGCCCCGCCCT	ENSP00000366650.3:n.1139+69_1139+78delinsGCCCCGCCCT
NM_001164716.1:c.1139+69_1139+78delinsGCCCCGCCCT	NP_001158188.1:n.1139+69_1139+78delinsGCCCCGCCCT
NM_005609.2:c.1403+69_1403+78delinsGCCCCGCCCT	NP_005600.1:n.1403+69_1403+78delinsGCCCCGCCCT
NM_005609.3:c.1403+69_1403+78delinsGCCCCGCCCT	NP_005600.1:n.1403+69_1403+78delinsGCCCCGCCCT
NM_005609.4:c.1403+69_1403+78delinsGCCCCGCCCT MANE Select	NP_005600.1:n.1403+69_1403+78delinsGCCCCGCCCT