Canonical Allele Identifier: CA614275205

Gene: PYGL

Linked Data

• dbSNP Id: rs1566518102
• gnomAD v2: 14-51411090-C-CGCTTCTCCTGGTCCGTCAGGG
• MyVariant Identifiers: chr14:g.51411090_51411091insGCTTCTCCTGGTCCGTCAGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944378_50944398dup , CM000676.2:g.50944378_50944398dup	GRCh38
NC_000014.8:g.51411096_51411116dup , CM000676.1:g.51411096_51411116dup	GRCh37
NC_000014.7:g.50480846_50480866dup	NCBI36
NG_012796.1:g.5138_5158dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.11_31dup MANE Select	ENSP00000216392.7:p.Lys10_Arg11insProLeuThrAspGlnGluLys
ENST00000216392.7:c.11_31dup	ENSP00000216392.7:p.Lys10_Arg11insProLeuThrAspGlnGluLys
ENST00000530336.2:n.78_98dup
ENST00000532462.5:c.11_31dup	ENSP00000431657.1:p.Lys10_Arg11insProLeuThrAspGlnGluLys
ENST00000544180.6:c.11_31dup	ENSP00000443787.1:p.Lys10_Arg11insProLeuThrAspGlnGluLys
NM_001163940.1:c.11_31dup	NP_001157412.1:p.Lys10_Arg11insProLeuThrAspGlnGluLys
NM_002863.4:c.11_31dup	NP_002854.3:p.Lys10_Arg11insProLeuThrAspGlnGluLys
NM_002863.5:c.11_31dup MANE Select	NP_002854.3:p.Lys10_Arg11insProLeuThrAspGlnGluLys
NM_001163940.2:c.11_31dup	NP_001157412.1:p.Lys10_Arg11insProLeuThrAspGlnGluLys