Canonical Allele Identifier: CA679277676

Gene: PYGM

Linked Data

• dbSNP Id: rs1200354228
• gnomAD v3: 11-64759581-CCACTTAAGTCAAGATCGCCAG-C
• gnomAD v4: 11-64759581-CCACTTAAGTCAAGATCGCCAG-C
• MyVariant Identifiers: chr11:g.64527054_64527074del (hg19) ; chr11:g.64759582_64759602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759583_64759603del , CM000673.2:g.64759583_64759603del	GRCh38
NC_000011.9:g.64527055_64527075del , CM000673.1:g.64527055_64527075del	GRCh37
NC_000011.8:g.64283631_64283651del	NCBI36
NG_013018.1:g.6114_6134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.243+54_243+74del MANE Select	ENSP00000164139.3:n.243+54_243+74del
ENST00000164139.3:c.243+54_243+74del	ENSP00000164139.3:n.243+54_243+74del
ENST00000377432.7:c.243+54_243+74del	ENSP00000366650.3:n.243+54_243+74del
NM_001164716.1:c.243+54_243+74del	NP_001158188.1:n.243+54_243+74del
NM_005609.2:c.243+54_243+74del	NP_005600.1:n.243+54_243+74del
NM_005609.3:c.243+54_243+74del	NP_005600.1:n.243+54_243+74del
NM_005609.4:c.243+54_243+74del MANE Select	NP_005600.1:n.243+54_243+74del