Canonical Allele Identifier: CA2695216899
Gene: KRT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519742_52519745del , CM000674.2:g.52519742_52519745del GRCh38
NC_000012.11:g.52913526_52913529del , CM000674.1:g.52913526_52913529del GRCh37
NC_000012.10:g.51199793_51199796del NCBI36
NG_008297.1:g.5715_5718del

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.552_555del MANE Select ENSP00000252242.4:p.Asp184GlufsTer27
ENST00000252242.8:c.552_555del ENSP00000252242.4:p.Asp184GlufsTer27
ENST00000549420.1:c.222_225del ENSP00000447209.1:p.Asp74GlufsTer27
ENST00000552629.5:n.650_653del
NM_000424.3:c.552_555del NP_000415.2:p.Asp184GlufsTer27
NM_000424.4:c.552_555del MANE Select NP_000415.2:p.Asp184GlufsTer27