Canonical Allele Identifier: CA2573053707
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339349
ClinVar RCV Id: RCV001823945
dbSNP Id: rs2120475630
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516748_52516759del , CM000674.2:g.52516748_52516759del GRCh38
NC_000012.11:g.52910532_52910543del , CM000674.1:g.52910532_52910543del GRCh37
NC_000012.10:g.51196799_51196810del NCBI36
NG_008297.1:g.8705_8716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1321_1332del MANE Select ENSP00000252242.4:p.Lys441_Gln444del
ENST00000252242.8:c.1321_1332del ENSP00000252242.4:p.Lys441_Gln444del
ENST00000547890.5:n.699_710del
ENST00000548409.5:c.443_454del
ENST00000549511.5:n.528_539del
ENST00000552629.5:n.1419_1430del
NM_000424.3:c.1321_1332del NP_000415.2:p.Lys441_Gln444del
NM_000424.4:c.1321_1332del MANE Select NP_000415.2:p.Lys441_Gln444del
Search 100 bp 5'
Search 100 bp 3'