Canonical Allele Identifier: CA2136416426

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911728_50911729delinsAC , CM000676.2:g.50911728_50911729delinsAC	GRCh38
NC_000014.8:g.51378446_51378447delinsAC , CM000676.1:g.51378446_51378447delinsAC	GRCh37
NC_000014.7:g.50448196_50448197delinsAC	NCBI36
NG_012796.1:g.37802_37803delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+1_1969+2delinsGT MANE Select	ENSP00000216392.7:n.1969+1_1969+2delinsGT
ENST00000216392.7:c.1969+1_1969+2delinsGT	ENSP00000216392.7:n.1969+1_1969+2delinsGT
ENST00000532107.2:n.142+1_142+2delinsGT
ENST00000532462.5:c.1969+1_1969+2delinsGT	ENSP00000431657.1:n.1969+1_1969+2delinsGT
ENST00000544180.6:c.1867+1_1867+2delinsGT	ENSP00000443787.1:n.1867+1_1867+2delinsGT
NM_001163940.1:c.1867+1_1867+2delinsGT	NP_001157412.1:n.1867+1_1867+2delinsGT
NM_002863.4:c.1969+1_1969+2delinsGT	NP_002854.3:n.1969+1_1969+2delinsGT
NM_002863.5:c.1969+1_1969+2delinsGT MANE Select	NP_002854.3:n.1969+1_1969+2delinsGT
NM_001163940.2:c.1867+1_1867+2delinsGT	NP_001157412.1:n.1867+1_1867+2delinsGT