Canonical Allele Identifier: CA1139662020

Gene: PYGM

Linked Data

• ClinVar Variation Id: 969160
• ClinVar RCV Id: RCV001244443
• dbSNP Id: rs2058422018
• gnomAD v4: 11-64759776-TACGAGTGTGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759778_64759788del , CM000673.2:g.64759778_64759788del	GRCh38
NC_000011.9:g.64527250_64527260del , CM000673.1:g.64527250_64527260del	GRCh37
NC_000011.8:g.64283826_64283836del	NCBI36
NG_013018.1:g.5929_5939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.112_122del MANE Select	ENSP00000164139.3:p.Phe38LysfsTer?
ENST00000164139.3:c.112_122del	ENSP00000164139.3:p.Phe38LysfsTer?
ENST00000377432.7:c.112_122del	ENSP00000366650.3:p.Phe38LysfsTer?
NM_001164716.1:c.112_122del	NP_001158188.1:p.Phe38LysfsTer?
NM_005609.2:c.112_122del	NP_005600.1:p.Phe38LysfsTer?
NM_005609.3:c.112_122del	NP_005600.1:p.Phe38LysfsTer?
NM_005609.4:c.112_122del MANE Select	NP_005600.1:p.Phe38LysfsTer?