Canonical Allele Identifier: CA2136414957

Gene: PYGL

Linked Data

• ClinVar Variation Id: 1007321
• ClinVar RCV Id: RCV001304479
• dbSNP Id: rs2050376472

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909992_50910018del , CM000676.2:g.50909992_50910018del	GRCh38
NC_000014.8:g.51376710_51376736del , CM000676.1:g.51376710_51376736del	GRCh37
NC_000014.7:g.50446460_50446486del	NCBI36
NG_012796.1:g.39521_39547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2062_2088del MANE Select	ENSP00000216392.7:p.Leu688_Ala696del
ENST00000216392.7:c.2062_2088del	ENSP00000216392.7:p.Leu688_Ala696del
ENST00000532107.2:n.235_261del
ENST00000532462.5:c.2062_2088del	ENSP00000431657.1:p.Leu688_Ala696del
ENST00000544180.6:c.1960_1986del	ENSP00000443787.1:p.Leu654_Ala662del
NM_001163940.1:c.1960_1986del	NP_001157412.1:p.Leu654_Ala662del
NM_002863.4:c.2062_2088del	NP_002854.3:p.Leu688_Ala696del
NM_002863.5:c.2062_2088del MANE Select	NP_002854.3:p.Leu688_Ala696del
NM_001163940.2:c.1960_1986del	NP_001157412.1:p.Leu654_Ala662del