Canonical Allele Identifier: CA2792531614

Gene: KMT5B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68157843_68157850del , CM000673.2:g.68157843_68157850del	GRCh38
NC_000011.9:g.67925310_67925317del , CM000673.1:g.67925310_67925317del	GRCh37
NC_000011.8:g.67681886_67681893del	NCBI36
NG_052873.1:g.60923_60930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.2283_2290del	ENSP00000406377.2:p.Glu762Ter
ENST00000524672.3:n.2848_2855del
ENST00000700520.1:c.*2120_*2127del	ENSP00000515027.1:n.*2120_*2127del
ENST00000700521.1:c.*2163_*2170del	ENSP00000515028.1:n.*2163_*2170del
ENST00000700522.1:c.*2163_*2170del	ENSP00000515029.1:n.*2163_*2170del
ENST00000700523.1:c.1980_1987del	ENSP00000515030.1:p.Glu661Ter
ENST00000700524.1:c.*1704_*1711del	ENSP00000515031.1:n.*1704_*1711del
ENST00000304363.9:c.2496_2503del MANE Select	ENSP00000305899.4:p.Glu833Ter
ENST00000304363.8:c.2496_2503del	ENSP00000305899.4:p.Glu833Ter
ENST00000441488.6:c.*1704_*1711del	ENSP00000411146.2:n.*1704_*1711del
ENST00000615954.4:c.2496_2503del	ENSP00000484858.1:p.Glu833Ter
NM_001300907.1:c.1980_1987del	NP_001287836.1:p.Glu661Ter
NM_001300908.1:c.1776_1783del	NP_001287837.1:p.Glu593Ter
NM_017635.4:c.2496_2503del	NP_060105.3:p.Glu833Ter
XM_005274035.2:c.2496_2503del	XP_005274092.2:p.Glu833Ter
XM_005274036.2:c.2427_2434del	XP_005274093.2:p.Glu810Ter
XM_005274037.1:c.1980_1987del	XP_005274094.1:p.Glu661Ter
XM_006718581.1:c.2427_2434del	XP_006718644.1:p.Glu810Ter
XM_011545091.1:c.2496_2503del	XP_011543393.1:p.Glu833Ter
XM_011545092.1:c.2283_2290del	XP_011543394.1:p.Glu762Ter
XM_011545093.1:c.1254_1261del	XP_011543395.1:p.Glu419Ter
XM_005274035.4:c.2496_2503del	XP_005274092.2:p.Glu833Ter
XM_005274036.4:c.2427_2434del	XP_005274093.2:p.Glu810Ter
XM_006718581.2:c.2427_2434del	XP_006718644.1:p.Glu810Ter
XM_011545092.3:c.2283_2290del	XP_011543394.1:p.Glu762Ter
XM_017017876.2:c.1980_1987del	XP_016873365.1:p.Glu661Ter
XM_017017877.2:c.1980_1987del	XP_016873366.1:p.Glu661Ter
XM_017017878.2:c.1980_1987del	XP_016873367.1:p.Glu661Ter
XM_017017879.2:c.1980_1987del	XP_016873368.1:p.Glu661Ter
XM_024448570.1:c.1254_1261del	XP_024304338.1:p.Glu419Ter
NM_017635.5:c.2496_2503del MANE Select	NP_060105.3:p.Glu833Ter
NM_001300908.2:c.1776_1783del	NP_001287837.1:p.Glu593Ter
NM_001369426.1:c.2496_2503del	NP_001356355.1:p.Glu833Ter
NM_001369428.1:c.1980_1987del	NP_001356357.1:p.Glu661Ter
NM_001369429.1:c.1980_1987del	NP_001356358.1:p.Glu661Ter
NM_001369430.1:c.1980_1987del	NP_001356359.1:p.Glu661Ter
NM_001369431.1:c.1980_1987del	NP_001356360.1:p.Glu661Ter
NM_001369432.1:c.1980_1987del	NP_001356361.1:p.Glu661Ter
NM_001369433.1:c.1980_1987del	NP_001356362.1:p.Glu661Ter