Canonical Allele Identifier: CA8548030
Gene: KRT10 HGNC NCBI

Linked Data

ClinVar Variation Id: 509055
ClinVar RCV Id: RCV001697377
dbSNP Id: rs753095095
ExAC: 17:38975329 G / GCCGCCGCCGGAGCTT
gnomAD v2: 17-38975329-G-GCCGCCGCCGGAGCTT
gnomAD v3: 17-40819077-G-GCCGCCGCCGGAGCTT
gnomAD v4: 17-40819077-G-GCCGCCGCCGGAGCTT
MyVariant Identifiers: chr17:g.38975330_38975344dup (hg19) chr17:g.38975344_38975345insCCGCCGCCGGAGCTT (hg19) chr17:g.38975329_38975330insCCGCCGCCGGAGCTT (hg19) chr17:g.40819078_40819092dup (hg38) chr17:g.40819092_40819093insCCGCCGCCGGAGCTT (hg38) chr17:g.40819077_40819078insCCGCCGCCGGAGCTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40819102_40819116dup , CM000679.2:g.40819102_40819116dup GRCh38
NC_000017.10:g.38975354_38975368dup , CM000679.1:g.38975354_38975368dup GRCh37
NC_000017.9:g.36228880_36228894dup NCBI36
NG_008405.1:g.8520_8534dup
NG_033147.1:g.5011_5025dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000269576.6:c.1443_1457dup MANE Select ENSP00000269576.5:p.Gly486_His487insSerSerGlyGlyGly
ENST00000635956.2:c.1443_1457dup ENSP00000490524.2:p.Gly486_His487insSerSerGlyGlyGly
ENST00000269576.5:c.1443_1457dup ENSP00000269576.5:p.Gly486_His487insSerSerGlyGlyGly
NM_000421.3:c.1443_1457dup NP_000412.3:p.Gly486_His487insSerSerGlyGlyGly
XM_005257343.2:c.1443_1457dup XP_005257400.1:p.Gly486_His487insSerSerGlyGlyGly
XM_005257343.3:c.1443_1457dup XP_005257400.1:p.Gly486_His487insSerSerGlyGlyGly
NM_000421.4:c.1443_1457dup NP_000412.3:p.Gly486_His487insSerSerGlyGlyGly
NM_000421.5:c.1443_1457dup MANE Select NP_000412.4:p.Gly486_His487insSerSerGlyGlyGly
NM_001379366.1:c.1443_1457dup NP_001366295.1:p.Gly486_His487insSerSerGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'