Canonical Allele Identifier: CA216754
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66261
ClinVar RCV Id: RCV000056618
dbSNP Id: rs61726460
MyVariant Identifiers: chr12:g.52913532_52913534del (hg19) chr12:g.52519748_52519750del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519750_52519752del , CM000674.2:g.52519750_52519752del GRCh38
NC_000012.11:g.52913534_52913536del , CM000674.1:g.52913534_52913536del GRCh37
NC_000012.10:g.51199801_51199803del NCBI36
NG_008297.1:g.5710_5712del

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.547_549del MANE Select ENSP00000252242.4:p.Ile183del
ENST00000252242.8:c.547_549del ENSP00000252242.4:p.Ile183del
ENST00000549420.1:c.217_219del ENSP00000447209.1:p.Ile73del
ENST00000552629.5:n.645_647del
NM_000424.3:c.547_549del NP_000415.2:p.Ile183del
NM_000424.4:c.547_549del MANE Select NP_000415.2:p.Ile183del
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