Canonical Allele Identifier: CA2136411120

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905380_50905382delinsCAA , CM000676.2:g.50905380_50905382delinsCAA	GRCh38
NC_000014.8:g.51372098_51372100delinsCAA , CM000676.1:g.51372098_51372100delinsCAA	GRCh37
NC_000014.7:g.50441848_50441850delinsCAA	NCBI36
NG_012796.1:g.44149_44151delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*10_*12delinsTTG MANE Select	ENSP00000216392.7:n.*10_*12delinsTTG
ENST00000216392.7:c.*10_*12delinsTTG	ENSP00000216392.7:n.*10_*12delinsTTG
ENST00000532462.5:c.2379+2889_2379+2891delinsTTG	ENSP00000431657.1:n.2379+2889_2379+2891delinsTTG
ENST00000544180.6:c.*10_*12delinsTTG	ENSP00000443787.1:n.*10_*12delinsTTG
NM_001163940.1:c.*10_*12delinsTTG	NP_001157412.1:n.*10_*12delinsTTG
NM_002863.4:c.*10_*12delinsTTG	NP_002854.3:n.*10_*12delinsTTG
NM_002863.5:c.*10_*12delinsTTG MANE Select	NP_002854.3:n.*10_*12delinsTTG
NM_001163940.2:c.*10_*12delinsTTG	NP_001157412.1:n.*10_*12delinsTTG