Canonical Allele Identifier: CA2580615206
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433270
ClinVar RCV Id: RCV003133961
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519756_52519758del , CM000674.2:g.52519756_52519758del GRCh38
NC_000012.11:g.52913540_52913542del , CM000674.1:g.52913540_52913542del GRCh37
NC_000012.10:g.51199807_51199809del NCBI36
NG_008297.1:g.5705_5707del

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.542_544del MANE Select ENSP00000252242.4:p.Ser181del
ENST00000252242.8:c.542_544del ENSP00000252242.4:p.Ser181del
ENST00000549420.1:c.212_214del ENSP00000447209.1:p.Ser71del
ENST00000551275.1:c.437_439del ENSP00000448041.1:p.Ser146del
ENST00000552629.5:n.640_642del
NM_000424.3:c.542_544del NP_000415.2:p.Ser181del
NM_000424.4:c.542_544del MANE Select NP_000415.2:p.Ser181del
Search 100 bp 5'
Search 100 bp 3'