Canonical Allele Identifier: CA216817
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 66300
ClinVar RCV Id: RCV000056662
dbSNP Id: rs267607401
MyVariant Identifiers: chr17:g.39739603_39739644dup42 (hg19) chr17:g.39739602_39739603insCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGAT (hg19) chr17:g.41583351_41583392dup42 (hg38) chr17:g.41583350_41583351insCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583364_41583405dup , CM000679.2:g.41583364_41583405dup GRCh38
NC_000017.10:g.39739616_39739657dup , CM000679.1:g.39739616_39739657dup GRCh37
NC_000017.9:g.36993142_36993183dup NCBI36
NG_008624.1:g.8504_8545dup

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.1117_1158dup MANE Select ENSP00000167586.6:p.Gln386_Leu387insIleGl...
ENST00000167586.6:c.1117_1158dup ENSP00000167586.6:p.Gln386_Leu387insIleGl...
ENST00000441550.2:n.64_105dup
ENST00000476662.1:n.567_608dup
NM_000526.4:c.1117_1158dup NP_000517.2:p.Gln386_Leu387insIleGlnGluMe...
NM_000526.5:c.1117_1158dup MANE Select NP_000517.3:p.Gln386_Leu387insIleGlnGluMe...
Search 100 bp 5'
Search 100 bp 3'