Canonical Allele Identifier: CA2618946314
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675349-GCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675362_52675430del , CM000674.2:g.52675362_52675430del GRCh38
NC_000012.11:g.53069146_53069214del , CM000674.1:g.53069146_53069214del GRCh37
NC_000012.10:g.51355413_51355481del NCBI36
NG_008364.1:g.9990_10058del
NG_008364.2:g.9990_10058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1710_1778del MANE Select ENSP00000252244.3:p.Gly571_Gly593del
NM_006121.3:c.1710_1778del NP_006112.3:p.Gly571_Gly593del
NM_006121.4:c.1710_1778del MANE Select NP_006112.3:p.Gly571_Gly593del
Search 100 bp 5'
Search 100 bp 3'