Canonical Allele Identifier: CA2624829433
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944211-CCAGGTGGTCGCGCACCGTGTGCGCCAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944213_50944239del , CM000676.2:g.50944213_50944239del GRCh38
NC_000014.8:g.51410931_51410957del , CM000676.1:g.51410931_51410957del GRCh37
NC_000014.7:g.50480681_50480707del NCBI36
NG_012796.1:g.5293_5319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.166_192del MANE Select ENSP00000216392.7:p.Leu56_Leu64del
ENST00000216392.7:c.166_192del ENSP00000216392.7:p.Leu56_Leu64del
ENST00000530336.2:n.233_259del
ENST00000532462.5:c.166_192del ENSP00000431657.1:p.Leu56_Leu64del
ENST00000544180.6:c.166_192del ENSP00000443787.1:p.Leu56_Leu64del
NM_001163940.1:c.166_192del NP_001157412.1:p.Leu56_Leu64del
NM_002863.4:c.166_192del NP_002854.3:p.Leu56_Leu64del
NM_002863.5:c.166_192del MANE Select NP_002854.3:p.Leu56_Leu64del
NM_001163940.2:c.166_192del NP_001157412.1:p.Leu56_Leu64del
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