Canonical Allele Identifier: CA2530593083
Gene: KRT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520179_52520180insTTCATTGATAGTTGGATCAAATCCAGATTCAATAGCCATATTA , CM000674.2:g.52520179_52520180insTTCATTGATAGTTGGATCAAATCCAGATTCAATAGCCATATTA GRCh38
NC_000012.11:g.52913963_52913964insTTCATTGATAGTTGGATCAAATCCAGATTCAATAGCCATATTA , CM000674.1:g.52913963_52913964insTTCATTGATAGTTGGATCAAATCCAGATTCAATAGCCATATTA GRCh37
NC_000012.10:g.51200230_51200231insTTCATTGATAGTTGGATCAAATCCAGATTCAATAGCCATATTA NCBI36
NG_008297.1:g.5280_5281insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.117_118insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA MANE Select ENSP00000252242.4:p.Gly40Ter
ENST00000252242.8:c.117_118insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA ENSP00000252242.4:p.Gly40Ter
ENST00000546577.1:c.117_118insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA ENSP00000449651.1:p.Gly40Ter
ENST00000549420.1:c.43+74_43+75insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA ENSP00000447209.1:n.43+74_43+75insTAATATGGCTATTGAATCTGGATTTGA...
ENST00000551275.1:c.117_118insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA ENSP00000448041.1:p.Gly40Ter
ENST00000552629.5:n.215_216insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA
NM_000424.3:c.117_118insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA NP_000415.2:p.Gly40Ter
NM_000424.4:c.117_118insTAATATGGCTATTGAATCTGGATTTGATCCAACTATCAATGAA MANE Select NP_000415.2:p.Gly40Ter