Canonical Allele Identifier: CA2624829138
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944078-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944080del , CM000676.2:g.50944080del GRCh38
NC_000014.8:g.51410798del , CM000676.1:g.51410798del GRCh37
NC_000014.7:g.50480548del NCBI36
NG_012796.1:g.5452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.243+82del MANE Select ENSP00000216392.7:n.243+82del
ENST00000216392.7:c.243+82del ENSP00000216392.7:n.243+82del
ENST00000530336.2:n.310+82del
ENST00000532462.5:c.243+82del ENSP00000431657.1:n.243+82del
ENST00000544180.6:c.243+82del ENSP00000443787.1:n.243+82del
NM_001163940.1:c.243+82del NP_001157412.1:n.243+82del
NM_002863.4:c.243+82del NP_002854.3:n.243+82del
NM_002863.5:c.243+82del MANE Select NP_002854.3:n.243+82del
NM_001163940.2:c.243+82del NP_001157412.1:n.243+82del
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