Canonical Allele Identifier: CA2136438354
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2050725934
gnomAD v4: 14-50944066-CCACTCTGAGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944067_50944076del , CM000676.2:g.50944067_50944076del GRCh38
NC_000014.8:g.51410785_51410794del , CM000676.1:g.51410785_51410794del GRCh37
NC_000014.7:g.50480535_50480544del NCBI36
NG_012796.1:g.5455_5464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.243+85_243+94del MANE Select ENSP00000216392.7:n.243+85_243+94del
ENST00000216392.7:c.243+85_243+94del ENSP00000216392.7:n.243+85_243+94del
ENST00000530336.2:n.310+85_310+94del
ENST00000532462.5:c.243+85_243+94del ENSP00000431657.1:n.243+85_243+94del
ENST00000544180.6:c.243+85_243+94del ENSP00000443787.1:n.243+85_243+94del
NM_001163940.1:c.243+85_243+94del NP_001157412.1:n.243+85_243+94del
NM_002863.4:c.243+85_243+94del NP_002854.3:n.243+85_243+94del
NM_002863.5:c.243+85_243+94del MANE Select NP_002854.3:n.243+85_243+94del
NM_001163940.2:c.243+85_243+94del NP_001157412.1:n.243+85_243+94del
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