Canonical Allele Identifier: CA2842606498
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675437_52675441del , CM000674.2:g.52675437_52675441del GRCh38
NC_000012.11:g.53069221_53069225del , CM000674.1:g.53069221_53069225del GRCh37
NC_000012.10:g.51355488_51355492del NCBI36
NG_008364.1:g.9967_9971del
NG_008364.2:g.9967_9971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1687_1691del MANE Select ENSP00000252244.3:p.Gly563GlnfsTer?
NM_006121.3:c.1687_1691del NP_006112.3:p.Gly563GlnfsTer?
NM_006121.4:c.1687_1691del MANE Select NP_006112.3:p.Gly563GlnfsTer?