Canonical Allele Identifier: CA2842706839
Gene: KRT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520292_52520293del , CM000674.2:g.52520292_52520293del GRCh38
NC_000012.11:g.52914076_52914077del , CM000674.1:g.52914076_52914077del GRCh37
NC_000012.10:g.51200343_51200344del NCBI36
NG_008297.1:g.5169_5170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.6_7del MANE Select ENSP00000252242.4:p.Arg3ProfsTer13
ENST00000252242.8:c.6_7del ENSP00000252242.4:p.Arg3ProfsTer13
ENST00000546577.1:c.6_7del ENSP00000449651.1:p.Arg3ProfsTer13
ENST00000549420.1:c.6_7del ENSP00000447209.1:p.Arg3ProfsTer?
ENST00000551275.1:c.6_7del ENSP00000448041.1:p.Arg3ProfsTer13
ENST00000552629.5:n.104_105del
NM_000424.3:c.6_7del NP_000415.2:p.Arg3ProfsTer13
NM_000424.4:c.6_7del MANE Select NP_000415.2:p.Arg3ProfsTer13