Canonical Allele Identifier: CA217368
Gene: KRT6B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66600
ClinVar RCV Id: RCV000057024
dbSNP Id: rs267607472

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451567_52451569del , CM000674.2:g.52451567_52451569del GRCh38
NC_000012.11:g.52845351_52845353del , CM000674.1:g.52845351_52845353del GRCh37
NC_000012.10:g.51131618_51131620del NCBI36
NG_008299.1:g.5564_5566del

Transcript Alleles

HGVS Amino-acid change
NM_005555.3:c.516_518del VV NP_005546.2:p.Asn172del
NM_005555.4:c.516_518del VV MANE Preferred NP_005546.2:p.Asn172del
ENST00000252252.3:c.516_518del ENSP00000252252.3:p.Asn172del