Canonical Allele Identifier: CA614275217

Gene: PYGL

Linked Data

• dbSNP Id: rs1246901988
• gnomAD v2: 14-51377022-ATT-A
• gnomAD v3: 14-50910304-ATT-A
• gnomAD v4: 14-50910304-ATT-A
• MyVariant Identifiers: chr14:g.51377023_51377024del (hg19) ; chr14:g.50910305_50910306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910306_50910307del , CM000676.2:g.50910306_50910307del	GRCh38
NC_000014.8:g.51377024_51377025del , CM000676.1:g.51377024_51377025del	GRCh37
NC_000014.7:g.50446774_50446775del	NCBI36
NG_012796.1:g.39225_39226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-204_1970-203del MANE Select	ENSP00000216392.7:n.1970-204_1970-203del
ENST00000216392.7:c.1970-204_1970-203del	ENSP00000216392.7:n.1970-204_1970-203del
ENST00000532107.2:n.143-204_143-203del
ENST00000532462.5:c.1970-204_1970-203del	ENSP00000431657.1:n.1970-204_1970-203del
ENST00000544180.6:c.1868-204_1868-203del	ENSP00000443787.1:n.1868-204_1868-203del
NM_001163940.1:c.1868-204_1868-203del	NP_001157412.1:n.1868-204_1868-203del
NM_002863.4:c.1970-204_1970-203del	NP_002854.3:n.1970-204_1970-203del
NM_002863.5:c.1970-204_1970-203del MANE Select	NP_002854.3:n.1970-204_1970-203del
NM_001163940.2:c.1868-204_1868-203del	NP_001157412.1:n.1868-204_1868-203del