Canonical Allele Identifier: CA6148001

Gene: KMT5B

Linked Data

• ClinVar Variation Id: 2239801
• ClinVar RCV Id: RCV002714202
• dbSNP Id: rs764684646
• ExAC: 11:67925302 CTCT / C
• gnomAD v2: 11-67925302-CTCT-C
• gnomAD v3: 11-68157835-CTCT-C
• gnomAD v4: 11-68157835-CTCT-C
• MyVariant Identifiers: chr11:g.67925303_67925305del (hg19) ; chr11:g.68157837_68157839del (hg38) ; chr11:g.68157836_68157838del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68157838_68157840del , CM000673.2:g.68157838_68157840del	GRCh38
NC_000011.9:g.67925305_67925307del , CM000673.1:g.67925305_67925307del	GRCh37
NC_000011.8:g.67681881_67681883del	NCBI36
NG_052873.1:g.60935_60937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.2295_2297del	ENSP00000406377.2:p.Glu766del
ENST00000524672.3:n.2860_2862del
ENST00000700520.1:c.*2132_*2134del	ENSP00000515027.1:n.*2132_*2134del
ENST00000700521.1:c.*2175_*2177del	ENSP00000515028.1:n.*2175_*2177del
ENST00000700522.1:c.*2175_*2177del	ENSP00000515029.1:n.*2175_*2177del
ENST00000700523.1:c.1992_1994del	ENSP00000515030.1:p.Glu665del
ENST00000700524.1:c.*1716_*1718del	ENSP00000515031.1:n.*1716_*1718del
ENST00000304363.9:c.2508_2510del MANE Select	ENSP00000305899.4:p.Glu837del
ENST00000304363.8:c.2508_2510del	ENSP00000305899.4:p.Glu837del
ENST00000441488.6:c.*1716_*1718del	ENSP00000411146.2:n.*1716_*1718del
ENST00000615954.4:c.2508_2510del	ENSP00000484858.1:p.Glu837del
NM_001300907.1:c.1992_1994del	NP_001287836.1:p.Glu665del
NM_001300908.1:c.1788_1790del	NP_001287837.1:p.Glu597del
NM_017635.4:c.2508_2510del	NP_060105.3:p.Glu837del
XM_005274035.2:c.2508_2510del	XP_005274092.2:p.Glu837del
XM_005274036.2:c.2439_2441del	XP_005274093.2:p.Glu814del
XM_005274037.1:c.1992_1994del	XP_005274094.1:p.Glu665del
XM_006718581.1:c.2439_2441del	XP_006718644.1:p.Glu814del
XM_011545091.1:c.2508_2510del	XP_011543393.1:p.Glu837del
XM_011545092.1:c.2295_2297del	XP_011543394.1:p.Glu766del
XM_011545093.1:c.1266_1268del	XP_011543395.1:p.Glu423del
XM_005274035.4:c.2508_2510del	XP_005274092.2:p.Glu837del
XM_005274036.4:c.2439_2441del	XP_005274093.2:p.Glu814del
XM_006718581.2:c.2439_2441del	XP_006718644.1:p.Glu814del
XM_011545092.3:c.2295_2297del	XP_011543394.1:p.Glu766del
XM_017017876.2:c.1992_1994del	XP_016873365.1:p.Glu665del
XM_017017877.2:c.1992_1994del	XP_016873366.1:p.Glu665del
XM_017017878.2:c.1992_1994del	XP_016873367.1:p.Glu665del
XM_017017879.2:c.1992_1994del	XP_016873368.1:p.Glu665del
XM_024448570.1:c.1266_1268del	XP_024304338.1:p.Glu423del
NM_017635.5:c.2508_2510del MANE Select	NP_060105.3:p.Glu837del
NM_001300908.2:c.1788_1790del	NP_001287837.1:p.Glu597del
NM_001369426.1:c.2508_2510del	NP_001356355.1:p.Glu837del
NM_001369428.1:c.1992_1994del	NP_001356357.1:p.Glu665del
NM_001369429.1:c.1992_1994del	NP_001356358.1:p.Glu665del
NM_001369430.1:c.1992_1994del	NP_001356359.1:p.Glu665del
NM_001369431.1:c.1992_1994del	NP_001356360.1:p.Glu665del
NM_001369432.1:c.1992_1994del	NP_001356361.1:p.Glu665del
NM_001369433.1:c.1992_1994del	NP_001356362.1:p.Glu665del