Canonical Allele Identifier: CA2580084658
Gene: KMT5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68171547del , CM000673.2:g.68171547del GRCh38
NC_000011.9:g.67939014del , CM000673.1:g.67939014del GRCh37
NC_000011.8:g.67695590del NCBI36
NG_052873.1:g.47227del

Transcript Alleles

HGVS Amino-acid Change
NM_017635.5:c.817del MANE Select NP_060105.3:p.His273MetfsTer19
ENST00000304363.9:c.817del MANE Select ENSP00000305899.4:p.His273MetfsTer19
NM_001300907.1:c.301del NP_001287836.1:p.His101MetfsTer19
NM_001300908.1:c.97del NP_001287837.1:p.His33MetfsTer19
NM_001300908.2:c.97del NP_001287837.1:p.His33MetfsTer19
NM_001300909.1:c.748del NP_001287838.1:p.His250MetfsTer19
NM_001300909.2:c.748del NP_001287838.1:p.His250MetfsTer19
NM_001363566.1:c.817del NP_001350495.1:p.His273MetfsTer19
NM_001363566.2:c.817del NP_001350495.1:p.His273MetfsTer19
NM_001369424.1:c.301del NP_001356353.1:p.His101MetfsTer19
NM_001369425.1:c.604del NP_001356354.1:p.His202MetfsTer19
NM_001369426.1:c.817del NP_001356355.1:p.His273MetfsTer19
NM_001369427.1:c.817del NP_001356356.1:p.His273MetfsTer19
NM_001369428.1:c.301del NP_001356357.1:p.His101MetfsTer19
NM_001369429.1:c.301del NP_001356358.1:p.His101MetfsTer19
NM_001369430.1:c.301del NP_001356359.1:p.His101MetfsTer19
NM_001369431.1:c.301del NP_001356360.1:p.His101MetfsTer19
NM_001369432.1:c.301del NP_001356361.1:p.His101MetfsTer19
NM_001369433.1:c.301del NP_001356362.1:p.His101MetfsTer19
NM_016028.4:c.817del NP_057112.3:p.His273MetfsTer19
NM_017635.4:c.817del NP_060105.3:p.His273MetfsTer19
NR_161378.1:n.1065del
NR_161379.1:n.902-295del
NR_161380.1:n.1426del
ENST00000304363.8:c.817del ENSP00000305899.4:p.His273MetfsTer19
ENST00000323599.10:c.597del
ENST00000401547.6:c.817del ENSP00000385965.2:p.His273MetfsTer19
ENST00000402185.6:c.748del ENSP00000384724.2:p.His250MetfsTer19
ENST00000402789.5:c.817del ENSP00000385005.1:p.His273MetfsTer19
ENST00000405515.5:c.817del ENSP00000385640.1:p.His273MetfsTer19
ENST00000427752.6:c.*405del ENSP00000387685.2:n.*405del
ENST00000441488.6:c.817del ENSP00000411146.2:p.His273MetfsTer8
ENST00000453170.6:c.604del ENSP00000406377.2:p.His202MetfsTer19
ENST00000458496.2:c.604del ENSP00000403233.2:p.His202MetfsTer19
ENST00000524672.3:n.1169del
ENST00000615954.4:c.817del ENSP00000484858.1:p.His273MetfsTer19
ENST00000700520.1:c.*441del ENSP00000515027.1:n.*441del
ENST00000700521.1:c.*484del ENSP00000515028.1:n.*484del
ENST00000700522.1:c.*484del ENSP00000515029.1:n.*484del
ENST00000700523.1:c.301del ENSP00000515030.1:p.His101MetfsTer19
ENST00000700524.1:c.301del ENSP00000515031.1:p.His101MetfsTer8
ENST00000700525.1:n.1709del
XM_005274035.2:c.817del XP_005274092.2:p.His273MetfsTer19
XM_005274035.4:c.817del XP_005274092.2:p.His273MetfsTer19
XM_005274036.2:c.748del XP_005274093.2:p.His250MetfsTer19
XM_005274036.4:c.748del XP_005274093.2:p.His250MetfsTer19
XM_005274037.1:c.301del XP_005274094.1:p.His101MetfsTer19
XM_006718581.1:c.748del XP_006718644.1:p.His250MetfsTer19
XM_006718581.2:c.748del XP_006718644.1:p.His250MetfsTer19
XM_011545091.1:c.817del XP_011543393.1:p.His273MetfsTer19
XM_011545092.1:c.604del XP_011543394.1:p.His202MetfsTer19
XM_011545092.3:c.604del XP_011543394.1:p.His202MetfsTer19
XM_011545093.1:c.-471del XP_011543395.1:n.-471del
XM_011545094.1:c.817del XP_011543396.1:p.His273MetfsTer19
XM_017017876.2:c.301del XP_016873365.1:p.His101MetfsTer19
XM_017017877.2:c.301del XP_016873366.1:p.His101MetfsTer19
XM_017017878.2:c.301del XP_016873367.1:p.His101MetfsTer19
XM_017017879.2:c.301del XP_016873368.1:p.His101MetfsTer19
XM_024448570.1:c.-471del XP_024304338.1:n.-471del