Canonical Allele Identifier: CA217440
Gene: KRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66639
ClinVar RCV Id: RCV000057077
dbSNP Id: rs267607656
ExAC: 12:53069222 CACCTCCGGAGCCGTAGCTGCT / C
gnomAD v2: 12-53069222-CACCTCCGGAGCCGTAGCTGCT-C
gnomAD v3: 12-52675438-CACCTCCGGAGCCGTAGCTGCT-C
gnomAD v4: 12-52675438-CACCTCCGGAGCCGTAGCTGCT-C
COSMIC: COSM1362564
MyVariant Identifiers: chr12:g.53069235_53069255del (hg19) chr12:g.53069223_53069243del (hg19) chr12:g.52675451_52675471del (hg38) chr12:g.52675440_52675460del (hg38) chr12:g.52675439_52675459del (hg38)
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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'