Canonical Allele Identifier: CA2136438517
Gene: PYGL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944370_50944371delinsGC , CM000676.2:g.50944370_50944371delinsGC GRCh38
NC_000014.8:g.51411088_51411089delinsGC , CM000676.1:g.51411088_51411089delinsGC GRCh37
NC_000014.7:g.50480838_50480839delinsGC NCBI36
NG_012796.1:g.5160_5161delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.33_34delinsGC MANE Select ENSP00000216392.7:p.Arg11=
ENST00000216392.7:c.33_34delinsGC ENSP00000216392.7:p.Arg11=
ENST00000530336.2:n.100_101delinsGC
ENST00000532462.5:c.33_34delinsGC ENSP00000431657.1:p.Arg11=
ENST00000544180.6:c.33_34delinsGC ENSP00000443787.1:p.Arg11=
NM_001163940.1:c.33_34delinsGC NP_001157412.1:p.Arg11=
NM_002863.4:c.33_34delinsGC NP_002854.3:p.Arg11=
NM_002863.5:c.33_34delinsGC MANE Select NP_002854.3:p.Arg11=
NM_001163940.2:c.33_34delinsGC NP_001157412.1:p.Arg11=
Search 100 bp 5'
Search 100 bp 3'