Canonical Allele Identifier: CA2614192114

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759941-ACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759946_64759948del , CM000673.2:g.64759946_64759948del	GRCh38
NC_000011.9:g.64527418_64527420del , CM000673.1:g.64527418_64527420del	GRCh37
NC_000011.8:g.64283994_64283996del	NCBI36
NG_013018.1:g.5772_5774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-46_-44del MANE Select	ENSP00000164139.3:n.-46_-44del
ENST00000164139.3:c.-46_-44del	ENSP00000164139.3:n.-46_-44del
ENST00000377432.7:c.-46_-44del	ENSP00000366650.3:n.-46_-44del
NM_001164716.1:c.-46_-44del	NP_001158188.1:n.-46_-44del
NM_005609.2:c.-46_-44del	NP_005600.1:n.-46_-44del
NM_005609.3:c.-46_-44del	NP_005600.1:n.-46_-44del
NM_005609.4:c.-46_-44del MANE Select	NP_005600.1:n.-46_-44del