Canonical Allele Identifier: CA2136415169

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910229_50910230delinsCA , CM000676.2:g.50910229_50910230delinsCA	GRCh38
NC_000014.8:g.51376947_51376948delinsCA , CM000676.1:g.51376947_51376948delinsCA	GRCh37
NC_000014.7:g.50446697_50446698delinsCA	NCBI36
NG_012796.1:g.39301_39302delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-128_1970-127delinsTG MANE Select	ENSP00000216392.7:n.1970-128_1970-127delinsTG
ENST00000216392.7:c.1970-128_1970-127delinsTG	ENSP00000216392.7:n.1970-128_1970-127delinsTG
ENST00000532107.2:n.143-128_143-127delinsTG
ENST00000532462.5:c.1970-128_1970-127delinsTG	ENSP00000431657.1:n.1970-128_1970-127delinsTG
ENST00000544180.6:c.1868-128_1868-127delinsTG	ENSP00000443787.1:n.1868-128_1868-127delinsTG
NM_001163940.1:c.1868-128_1868-127delinsTG	NP_001157412.1:n.1868-128_1868-127delinsTG
NM_002863.4:c.1970-128_1970-127delinsTG	NP_002854.3:n.1970-128_1970-127delinsTG
NM_002863.5:c.1970-128_1970-127delinsTG MANE Select	NP_002854.3:n.1970-128_1970-127delinsTG
NM_001163940.2:c.1868-128_1868-127delinsTG	NP_001157412.1:n.1868-128_1868-127delinsTG