Canonical Allele Identifier: CA2136438444
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944219_50944221delinsTCG , CM000676.2:g.50944219_50944221delinsTCG GRCh38
NC_000014.8:g.51410937_51410939delinsTCG , CM000676.1:g.51410937_51410939delinsTCG GRCh37
NC_000014.7:g.50480687_50480689delinsTCG NCBI36
NG_012796.1:g.5310_5312delinsCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.183_185delinsCGA MANE Select ENSP00000216392.7:p.Arg61=
ENST00000216392.7:c.183_185delinsCGA ENSP00000216392.7:p.Arg61=
ENST00000530336.2:n.250_252delinsCGA
ENST00000532462.5:c.183_185delinsCGA ENSP00000431657.1:p.Arg61=
ENST00000544180.6:c.183_185delinsCGA ENSP00000443787.1:p.Arg61=
NM_001163940.1:c.183_185delinsCGA NP_001157412.1:p.Arg61=
NM_002863.4:c.183_185delinsCGA NP_002854.3:p.Arg61=
NM_002863.5:c.183_185delinsCGA MANE Select NP_002854.3:p.Arg61=
NM_001163940.2:c.183_185delinsCGA NP_001157412.1:p.Arg61=
Search 100 bp 5'
Search 100 bp 3'