Canonical Allele Identifier: CA2136438438
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944206_50944225delinsCCCCACCAGGTGGTCGCGCA , CM000676.2:g.50944206_50944225delinsCCCCACCAGGTGGTCGCGCA GRCh38
NC_000014.8:g.51410924_51410943delinsCCCCACCAGGTGGTCGCGCA , CM000676.1:g.51410924_51410943delinsCCCCACCAGGTGGTCGCGCA GRCh37
NC_000014.7:g.50480674_50480693delinsCCCCACCAGGTGGTCGCGCA NCBI36
NG_012796.1:g.5306_5325delinsTGCGCGACCACCTGGTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.179_198delinsTGCGCGACCACCTGGTGGGG MANE Select ENSP00000216392.7:p.Val60=
ENST00000216392.7:c.179_198delinsTGCGCGACCACCTGGTGGGG ENSP00000216392.7:p.Val60=
ENST00000530336.2:n.246_265delinsTGCGCGACCACCTGGTGGGG
ENST00000532462.5:c.179_198delinsTGCGCGACCACCTGGTGGGG ENSP00000431657.1:p.Val60=
ENST00000544180.6:c.179_198delinsTGCGCGACCACCTGGTGGGG ENSP00000443787.1:p.Val60=
NM_001163940.1:c.179_198delinsTGCGCGACCACCTGGTGGGG NP_001157412.1:p.Val60=
NM_002863.4:c.179_198delinsTGCGCGACCACCTGGTGGGG NP_002854.3:p.Val60=
NM_002863.5:c.179_198delinsTGCGCGACCACCTGGTGGGG MANE Select NP_002854.3:p.Val60=
NM_001163940.2:c.179_198delinsTGCGCGACCACCTGGTGGGG NP_001157412.1:p.Val60=
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