Canonical Allele Identifier: CA8547896

Gene: KRT10

Linked Data

• ClinVar Variation Id: 516735
• ClinVar RCV Id: RCV000601257 ; RCV000948451 ; RCV002506484 ; RCV003980188
• dbSNP Id: rs776920005
• ExAC: 17:38975103 A / AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT
• gnomAD v3: 17-40818851-A-AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT
• gnomAD v4: 17-40818851-A-AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT
• COSMIC: COSM5959634
• MyVariant Identifiers: chr17:g.38975104_38975133dup (hg19) ; chr17:g.38975112_38975113insGCCGTATCCGCCGCCGGAGCTGCTGCCGCC (hg19) ; chr17:g.38975103_38975104insGCTGCCGCCGCCGTATCCGCCGCCGGAGCT (hg19) ; chr17:g.40818852_40818881dup (hg38) ; chr17:g.40818851_40818852insGCTGCCGCCGCCGTATCCGCCGCCGGAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40818865_40818894dup , CM000679.2:g.40818865_40818894dup	GRCh38
NC_000017.10:g.38975117_38975146dup , CM000679.1:g.38975117_38975146dup	GRCh37
NC_000017.9:g.36228643_36228672dup	NCBI36
NG_008405.1:g.8731_8760dup
NG_033147.1:g.4774_4803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269576.6:c.1654_1683dup MANE Select	ENSP00000269576.5:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyG...
ENST00000635956.2:c.1654_1683dup	ENSP00000490524.2:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyG...
ENST00000269576.5:c.1654_1683dup	ENSP00000269576.5:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyG...
NM_000421.3:c.1654_1683dup	NP_000412.3:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlySer
XM_005257343.2:c.1654_1683dup	XP_005257400.1:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlyS...
XM_005257343.3:c.1654_1683dup	XP_005257400.1:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlyS...
NM_000421.4:c.1654_1683dup	NP_000412.3:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlySer
NM_000421.5:c.1654_1683dup MANE Select	NP_000412.4:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlySer
NM_001379366.1:c.1654_1683dup	NP_001366295.1:p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlyS...