Canonical Allele Identifier: CA599803650

Gene: PYGM

Linked Data

• ClinVar Variation Id: 546472
• ClinVar RCV Id: RCV000658355
• dbSNP Id: rs1489442842
• gnomAD v2: 11-64520988-C-CA
• gnomAD v3: 11-64753516-C-CA
• gnomAD v4: 11-64753516-C-CA
• MyVariant Identifiers: chr11:g.64520989dup (hg19) ; chr11:g.64520988_64520989insA (hg19) ; chr11:g.64753517dup (hg38) ; chr11:g.64753516_64753517insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753517dup , CM000673.2:g.64753517dup	GRCh38
NC_000011.9:g.64520989dup , CM000673.1:g.64520989dup	GRCh37
NC_000011.8:g.64277565dup	NCBI36
NG_013018.1:g.12199dup

Transcript Alleles

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