Canonical Allele Identifier: CA1978928637
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758689_64758709delinsACAGGTAGTAGATCCTCTGCC , CM000673.2:g.64758689_64758709delinsACAGGTAGTAGATCCTCTGCC GRCh38
NC_000011.9:g.64526161_64526181delinsACAGGTAGTAGATCCTCTGCC , CM000673.1:g.64526161_64526181delinsACAGGTAGTAGATCCTCTGCC GRCh37
NC_000011.8:g.64282737_64282757delinsACAGGTAGTAGATCCTCTGCC NCBI36
NG_013018.1:g.7007_7027delinsGGCAGAGGATCTACTACCTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.244-5_259delinsGGCAGAGGATCTACTACCTGT
ENST00000164139.3:c.244-5_259delinsGGCAGAGGATCTACTACCTGT
ENST00000377432.7:c.244-443_244-423delinsGGCAGAGGATCTACTACCTGT ENSP00000366650.3:n.244-443_244-423delins...
NM_001164716.1:c.244-443_244-423delinsGGCAGAGGATCTACTACCTGT NP_001158188.1:n.244-443_244-423delinsGGC...
NM_005609.2:c.244-5_259delinsGGCAGAGGATCTACTACCTGT
NM_005609.3:c.244-5_259delinsGGCAGAGGATCTACTACCTGT
NM_005609.4:c.244-5_259delinsGGCAGAGGATCTACTACCTGT