Canonical Allele Identifier: CA2695216901
Gene: KRT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519817_52519828del , CM000674.2:g.52519817_52519828del GRCh38
NC_000012.11:g.52913601_52913612del , CM000674.1:g.52913601_52913612del GRCh37
NC_000012.10:g.51199868_51199879del NCBI36
NG_008297.1:g.5635_5646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.472_483del MANE Select ENSP00000252242.4:p.Asp158_Ile161del
ENST00000252242.8:c.472_483del ENSP00000252242.4:p.Asp158_Ile161del
ENST00000549420.1:c.142_153del ENSP00000447209.1:p.Asp48_Ile51del
ENST00000551275.1:c.367_378del ENSP00000448041.1:p.Asp123_Ile126del
ENST00000552629.5:n.570_581del
NM_000424.3:c.472_483del NP_000415.2:p.Asp158_Ile161del
NM_000424.4:c.472_483del MANE Select NP_000415.2:p.Asp158_Ile161del