Canonical Allele Identifier: CA6586064
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs777651240
ExAC: 12:53069223 AC / A
gnomAD v2: 12-53069223-AC-A
gnomAD v3: 12-52675439-AC-A
gnomAD v4: 12-52675439-AC-A
MyVariant Identifiers: chr12:g.53069224del (hg19) chr12:g.52675440del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675441del , CM000674.2:g.52675441del GRCh38
NC_000012.11:g.53069225del , CM000674.1:g.53069225del GRCh37
NC_000012.10:g.51355492del NCBI36
NG_008364.1:g.9968del
NG_008364.2:g.9968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1688del MANE Select ENSP00000252244.3:p.Gly563ValfsTer?
NM_006121.3:c.1688del NP_006112.3:p.Gly563ValfsTer?
NM_006121.4:c.1688del MANE Select NP_006112.3:p.Gly563ValfsTer?
Search 100 bp 5'
Search 100 bp 3'