Canonical Allele Identifier: CA2136438442
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944216_50944217delinsTG , CM000676.2:g.50944216_50944217delinsTG GRCh38
NC_000014.8:g.51410934_51410935delinsTG , CM000676.1:g.51410934_51410935delinsTG GRCh37
NC_000014.7:g.50480684_50480685delinsTG NCBI36
NG_012796.1:g.5314_5315delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.187_188delinsCA MANE Select ENSP00000216392.7:p.His63=
ENST00000216392.7:c.187_188delinsCA ENSP00000216392.7:p.His63=
ENST00000530336.2:n.254_255delinsCA
ENST00000532462.5:c.187_188delinsCA ENSP00000431657.1:p.His63=
ENST00000544180.6:c.187_188delinsCA ENSP00000443787.1:p.His63=
NM_001163940.1:c.187_188delinsCA NP_001157412.1:p.His63=
NM_002863.4:c.187_188delinsCA NP_002854.3:p.His63=
NM_002863.5:c.187_188delinsCA MANE Select NP_002854.3:p.His63=
NM_001163940.2:c.187_188delinsCA NP_001157412.1:p.His63=
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