Canonical Allele Identifier: CA2136416412

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911725_50911729delinsAGTAC , CM000676.2:g.50911725_50911729delinsAGTAC	GRCh38
NC_000014.8:g.51378443_51378447delinsAGTAC , CM000676.1:g.51378443_51378447delinsAGTAC	GRCh37
NC_000014.7:g.50448193_50448197delinsAGTAC	NCBI36
NG_012796.1:g.37802_37806delinsGTACT

Transcript Alleles

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