Canonical Allele Identifier: CA216689
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66225
ClinVar RCV Id: RCV000056576 RCV002284185
dbSNP Id: rs57187183
MyVariant Identifiers: chr12:g.52908864del (hg19) chr12:g.52515080del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52515082del , CM000674.2:g.52515082del GRCh38
NC_000012.11:g.52908866del , CM000674.1:g.52908866del GRCh37
NC_000012.10:g.51195133del NCBI36
NG_008297.1:g.10380del

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1635del MANE Select ENSP00000252242.4:p.Leu546SerfsTer?
ENST00000252242.8:c.1635del ENSP00000252242.4:p.Leu546SerfsTer?
ENST00000552952.1:n.560del
NM_000424.3:c.1635del NP_000415.2:p.Leu546SerfsTer?
NM_000424.4:c.1635del MANE Select NP_000415.2:p.Leu546SerfsTer?
Search 100 bp 5'
Search 100 bp 3'