Canonical Allele Identifier: CA217442

Gene: KRT1

Linked Data

• ClinVar Variation Id: 66640
• ClinVar RCV Id: RCV000057078
• dbSNP Id: rs267607425
• MyVariant Identifiers: chr12:g.53069160_53069161insC (hg19) ; chr12:g.52675376_52675377insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675377dup , CM000674.2:g.52675377dup	GRCh38
NC_000012.11:g.53069161dup , CM000674.1:g.53069161dup	GRCh37
NC_000012.10:g.51355428dup	NCBI36
NG_008364.1:g.10031dup
NG_008364.2:g.10031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1751dup MANE Select	ENSP00000252244.3:p.Ser584ArgfsTer?
NM_006121.3:c.1751dup	NP_006112.3:p.Ser584ArgfsTer?
NM_006121.4:c.1751dup MANE Select	NP_006112.3:p.Ser584ArgfsTer?