Canonical Allele Identifier: CA7183280

Gene: PYGL

Linked Data

• dbSNP Id: rs770510585
• ExAC: 14:51378443 AGTACC / A
• gnomAD v2: 14-51378443-AGTACC-A
• gnomAD v3: 14-50911725-AGTACC-A
• gnomAD v4: 14-50911725-AGTACC-A
• MyVariant Identifiers: chr14:g.51378444_51378448del (hg19) ; chr14:g.50911726_50911730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911726_50911730del , CM000676.2:g.50911726_50911730del	GRCh38
NC_000014.8:g.51378444_51378448del , CM000676.1:g.51378444_51378448del	GRCh37
NC_000014.7:g.50448194_50448198del	NCBI36
NG_012796.1:g.37801_37805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969_1969+4del
ENST00000216392.7:c.1969_1969+4del
ENST00000532107.2:n.142_142+4del
ENST00000532462.5:c.1969_1969+4del
ENST00000544180.6:c.1867_1867+4del
NM_001163940.1:c.1867_1867+4del
NM_002863.4:c.1969_1969+4del
NM_002863.5:c.1969_1969+4del
NM_001163940.2:c.1867_1867+4del