Canonical Allele Identifier: CA706604630

Gene: PYGL

Linked Data

• dbSNP Id: rs1413003753
• MyVariant Identifiers: chr14:g.51377038_51377039insT (hg19) ; chr14:g.50910320_50910321insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910321dup , CM000676.2:g.50910321dup	GRCh38
NC_000014.8:g.51377039dup , CM000676.1:g.51377039dup	GRCh37
NC_000014.7:g.50446789dup	NCBI36
NG_012796.1:g.39210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-219dup MANE Select	ENSP00000216392.7:n.1970-219dup
ENST00000216392.7:c.1970-219dup	ENSP00000216392.7:n.1970-219dup
ENST00000532107.2:n.143-219dup
ENST00000532462.5:c.1970-219dup	ENSP00000431657.1:n.1970-219dup
ENST00000544180.6:c.1868-219dup	ENSP00000443787.1:n.1868-219dup
NM_001163940.1:c.1868-219dup	NP_001157412.1:n.1868-219dup
NM_002863.4:c.1970-219dup	NP_002854.3:n.1970-219dup
NM_002863.5:c.1970-219dup MANE Select	NP_002854.3:n.1970-219dup
NM_001163940.2:c.1868-219dup	NP_001157412.1:n.1868-219dup