Canonical Allele Identifier: CA2580084652

Gene: KMT5B

Linked Data

• ClinVar Variation Id: 2436525
• ClinVar RCV Id: RCV003138861

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68157875_68157878del , CM000673.2:g.68157875_68157878del	GRCh38
NC_000011.9:g.67925342_67925345del , CM000673.1:g.67925342_67925345del	GRCh37
NC_000011.8:g.67681918_67681921del	NCBI36
NG_052873.1:g.60898_60901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.2258_2261del	ENSP00000406377.2:p.Glu753ValfsTer?
ENST00000524672.3:n.2823_2826del
ENST00000700520.1:c.*2095_*2098del	ENSP00000515027.1:n.*2095_*2098del
ENST00000700521.1:c.*2138_*2141del	ENSP00000515028.1:n.*2138_*2141del
ENST00000700522.1:c.*2138_*2141del	ENSP00000515029.1:n.*2138_*2141del
ENST00000700523.1:c.1955_1958del	ENSP00000515030.1:p.Glu652ValfsTer?
ENST00000700524.1:c.*1679_*1682del	ENSP00000515031.1:n.*1679_*1682del
ENST00000304363.9:c.2471_2474del MANE Select	ENSP00000305899.4:p.Glu824ValfsTer?
ENST00000304363.8:c.2471_2474del	ENSP00000305899.4:p.Glu824ValfsTer?
ENST00000441488.6:c.*1679_*1682del	ENSP00000411146.2:n.*1679_*1682del
ENST00000615954.4:c.2471_2474del	ENSP00000484858.1:p.Glu824ValfsTer?
NM_001300907.1:c.1955_1958del	NP_001287836.1:p.Glu652ValfsTer?
NM_001300908.1:c.1751_1754del	NP_001287837.1:p.Glu584ValfsTer?
NM_017635.4:c.2471_2474del	NP_060105.3:p.Glu824ValfsTer?
XM_005274035.2:c.2471_2474del	XP_005274092.2:p.Glu824ValfsTer?
XM_005274036.2:c.2402_2405del	XP_005274093.2:p.Glu801ValfsTer?
XM_005274037.1:c.1955_1958del	XP_005274094.1:p.Glu652ValfsTer?
XM_006718581.1:c.2402_2405del	XP_006718644.1:p.Glu801ValfsTer?
XM_011545091.1:c.2471_2474del	XP_011543393.1:p.Glu824ValfsTer?
XM_011545092.1:c.2258_2261del	XP_011543394.1:p.Glu753ValfsTer?
XM_011545093.1:c.1229_1232del	XP_011543395.1:p.Glu410ValfsTer?
XM_005274035.4:c.2471_2474del	XP_005274092.2:p.Glu824ValfsTer?
XM_005274036.4:c.2402_2405del	XP_005274093.2:p.Glu801ValfsTer?
XM_006718581.2:c.2402_2405del	XP_006718644.1:p.Glu801ValfsTer?
XM_011545092.3:c.2258_2261del	XP_011543394.1:p.Glu753ValfsTer?
XM_017017876.2:c.1955_1958del	XP_016873365.1:p.Glu652ValfsTer?
XM_017017877.2:c.1955_1958del	XP_016873366.1:p.Glu652ValfsTer?
XM_017017878.2:c.1955_1958del	XP_016873367.1:p.Glu652ValfsTer?
XM_017017879.2:c.1955_1958del	XP_016873368.1:p.Glu652ValfsTer?
XM_024448570.1:c.1229_1232del	XP_024304338.1:p.Glu410ValfsTer?
NM_017635.5:c.2471_2474del MANE Select	NP_060105.3:p.Glu824ValfsTer?
NM_001300908.2:c.1751_1754del	NP_001287837.1:p.Glu584ValfsTer?
NM_001369426.1:c.2471_2474del	NP_001356355.1:p.Glu824ValfsTer?
NM_001369428.1:c.1955_1958del	NP_001356357.1:p.Glu652ValfsTer?
NM_001369429.1:c.1955_1958del	NP_001356358.1:p.Glu652ValfsTer?
NM_001369430.1:c.1955_1958del	NP_001356359.1:p.Glu652ValfsTer?
NM_001369431.1:c.1955_1958del	NP_001356360.1:p.Glu652ValfsTer?
NM_001369432.1:c.1955_1958del	NP_001356361.1:p.Glu652ValfsTer?
NM_001369433.1:c.1955_1958del	NP_001356362.1:p.Glu652ValfsTer?