Canonical Allele Identifier: CA217342
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66578
ClinVar RCV Id: RCV000057000
dbSNP Id: rs267607471
MyVariant Identifiers: chr12:g.52881687_52881688insC (hg19) chr12:g.52487903_52487904insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487905dup , CM000674.2:g.52487905dup GRCh38
NC_000012.11:g.52881689dup , CM000674.1:g.52881689dup GRCh37
NC_000012.10:g.51167956dup NCBI36
NG_008298.1:g.10494dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1511dup MANE Select ENSP00000369317.3:p.Ser505GlnfsTer?
ENST00000330722.6:c.1511dup ENSP00000369317.3:p.Ser505GlnfsTer?
NM_005554.3:c.1511dup NP_005545.1:p.Ser505GlnfsTer?
NM_005554.4:c.1511dup MANE Select NP_005545.1:p.Ser505GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'