Canonical Allele Identifier: CA599803646

Gene: PYGM

Linked Data

• dbSNP Id: rs1307120342
• gnomAD v2: 11-64520971-A-AGAGAGGGG
• gnomAD v3: 11-64753499-A-AGAGAGGGG
• gnomAD v4: 11-64753499-A-AGAGAGGGG
• MyVariant Identifiers: chr11:g.64520971_64520972insGAGAGGGG (hg19) ; chr11:g.64753499_64753500insGAGAGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753499_64753500insGAGAGGGG , CM000673.2:g.64753499_64753500insGAGAGGGG	GRCh38
NC_000011.9:g.64520971_64520972insGAGAGGGG , CM000673.1:g.64520971_64520972insGAGAGGGG	GRCh37
NC_000011.8:g.64277547_64277548insGAGAGGGG	NCBI36
NG_013018.1:g.12216_12217insCCCCTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+19_1403+20insCCCCTCTC MANE Select	ENSP00000164139.3:n.1403+19_1403+20insCCCCTCTC
ENST00000164139.3:c.1403+19_1403+20insCCCCTCTC	ENSP00000164139.3:n.1403+19_1403+20insCCCCTCTC
ENST00000377432.7:c.1139+19_1139+20insCCCCTCTC	ENSP00000366650.3:n.1139+19_1139+20insCCCCTCTC
NM_001164716.1:c.1139+19_1139+20insCCCCTCTC	NP_001158188.1:n.1139+19_1139+20insCCCCTCTC
NM_005609.2:c.1403+19_1403+20insCCCCTCTC	NP_005600.1:n.1403+19_1403+20insCCCCTCTC
NM_005609.3:c.1403+19_1403+20insCCCCTCTC	NP_005600.1:n.1403+19_1403+20insCCCCTCTC
NM_005609.4:c.1403+19_1403+20insCCCCTCTC MANE Select	NP_005600.1:n.1403+19_1403+20insCCCCTCTC