Canonical Allele Identifier: CA216657

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66207
• ClinVar RCV Id: RCV000056552
• dbSNP Id: rs267607447
• MyVariant Identifiers: chr12:g.52910495_52910498delinsTACCAGCT (hg19) ; chr12:g.52516711_52516714delinsTACCAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516711_52516714delinsTACCAGCT , CM000674.2:g.52516711_52516714delinsTACCAGCT	GRCh38
NC_000012.11:g.52910495_52910498delinsTACCAGCT , CM000674.1:g.52910495_52910498delinsTACCAGCT	GRCh37
NC_000012.10:g.51196762_51196765delinsTACCAGCT	NCBI36
NG_008297.1:g.8746_8749delinsAGCTGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1362_1365delinsAGCTGGTA MANE Select	ENSP00000252242.4:p.Glu455AlafsTer?
ENST00000252242.8:c.1362_1365delinsAGCTGGTA	ENSP00000252242.4:p.Glu455AlafsTer?
ENST00000547890.5:n.740_743delinsAGCTGGTA
ENST00000548409.5:c.484_487delinsAGCTGGTA
ENST00000549511.5:n.569_572delinsAGCTGGTA
ENST00000552629.5:n.1460_1463delinsAGCTGGTA
NM_000424.3:c.1362_1365delinsAGCTGGTA	NP_000415.2:p.Glu455AlafsTer?
NM_000424.4:c.1362_1365delinsAGCTGGTA MANE Select	NP_000415.2:p.Glu455AlafsTer?