Canonical Allele Identifier: CA216709

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66235
• ClinVar RCV Id: RCV000015762 ; RCV000056587
• dbSNP Id: rs61348424
• MyVariant Identifiers: chr12:g.52913663dupT (hg19) ; chr12:g.52913662_52913663insT (hg19) ; chr12:g.52519879dupT (hg38) ; chr12:g.52519878_52519879insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519879dup , CM000674.2:g.52519879dup	GRCh38
NC_000012.11:g.52913663dup , CM000674.1:g.52913663dup	GRCh37
NC_000012.10:g.51199930dup	NCBI36
NG_008297.1:g.5581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.418dup MANE Select	ENSP00000252242.4:p.Ile140AsnfsTer?
ENST00000252242.8:c.418dup	ENSP00000252242.4:p.Ile140AsnfsTer?
ENST00000549420.1:c.88dup	ENSP00000447209.1:p.Ile30AsnfsTer?
ENST00000551275.1:c.313dup	ENSP00000448041.1:p.Ile105AsnfsTer?
ENST00000552629.5:n.516dup
NM_000424.3:c.418dup	NP_000415.2:p.Ile140AsnfsTer?
NM_000424.4:c.418dup MANE Select	NP_000415.2:p.Ile140AsnfsTer?