Canonical Allele Identifier: CA2618946373
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675452-TAGCTGCTACCTCCGGAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675453_52675469del , CM000674.2:g.52675453_52675469del GRCh38
NC_000012.11:g.53069237_53069253del , CM000674.1:g.53069237_53069253del GRCh37
NC_000012.10:g.51355504_51355520del NCBI36
NG_008364.1:g.9939_9955del
NG_008364.2:g.9939_9955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1659_1675del MANE Select ENSP00000252244.3:p.Ser554ArgfsTer?
NM_006121.3:c.1659_1675del NP_006112.3:p.Ser554ArgfsTer?
NM_006121.4:c.1659_1675del MANE Select NP_006112.3:p.Ser554ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'