Canonical Allele Identifier: CA209357

Gene: PACS1

Linked Data

• ClinVar Variation Id: 211810
• ClinVar RCV Id: RCV000194892 ; RCV002307440
• dbSNP Id: rs1176211628
• ExAC: 11:65838049 A / AGCC
• gnomAD v2: 11-65838049-A-AGCC
• gnomAD v3: 11-66070578-A-AGCC
• gnomAD v4: 11-66070578-A-AGCC
• MyVariant Identifiers: chr11:g.65838058_65838060dupCGC (hg19) ; chr11:g.65838052_65838053insGCC (hg19) ; chr11:g.65838049_65838050insGCC (hg19) ; chr11:g.66070587_66070589dupCGC (hg38) ; chr11:g.66070578_66070579insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66070587_66070589dup , CM000673.2:g.66070587_66070589dup	GRCh38
NC_000011.9:g.65838058_65838060dup , CM000673.1:g.65838058_65838060dup	GRCh37
NC_000011.8:g.65594634_65594636dup	NCBI36
NG_033900.1:g.5235_5237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.101_103dup MANE Select	ENSP00000316454.4:p.Pro34_Gln35insPro
ENST00000320580.8:c.101_103dup	ENSP00000316454.4:p.Pro34_Gln35insPro
ENST00000527224.1:n.225_227dup
NM_018026.3:c.101_103dup	NP_060496.2:p.Pro34_Gln35insPro
XR_001747924.1:n.312_314dup
NM_018026.4:c.101_103dup MANE Select	NP_060496.2:p.Pro34_Gln35insPro