Allele Registry

Canonical Allele Identifier: CA217440

Gene: KRT1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM1362564

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr12:g.52675451_52675471del

GRCh38 chr12:g.52675440_52675460del

GRCh38 chr12:g.52675439_52675459del

GRCh37 chr12:g.53069235_53069255del

GRCh37 chr12:g.53069223_53069243del

Linked Data - Sequence & Population

gnomAD v2:

12:53069222 CACCTCCGGAGCCGTAGCTGCT / C

gnomAD v3:

12:52675438 CACCTCCGGAGCCGTAGCTGCT / C

gnomAD v4:

chr12-52675438-CACCTCCGGAGCCGTAGCTGCT-C

Joint Max Group AF 0.47092051 (NFE)

Genomes Max Group AF 0.46583604 (NFE)

Exomes Max Group AF 0.47099977 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000057077

ClinVar Variation:

66639

dbSNP:

267607656

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675451_52675471del , CM000674.2:g.52675451_52675471del	GRCh38
NC_000012.11:g.53069235_53069255del , CM000674.1:g.53069235_53069255del	GRCh37
NC_000012.10:g.51355502_51355522del	NCBI36
NG_008364.1:g.9949_9969del
NG_008364.2:g.9949_9969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1669_1689del MANE Select	ENSP00000252244.3:p.Ser557_Gly563del
NM_006121.3:c.1669_1689del	NP_006112.3:p.Ser557_Gly563del
NM_006121.4:c.1669_1689del MANE Select	NP_006112.3:p.Ser557_Gly563del

Search 100 bp 5'

Search 100 bp 3'