Canonical Allele Identifier: CA6147996

Gene: KMT5B

Linked Data

• ClinVar Variation Id: 789490
• ClinVar RCV Id: RCV000972129 ; RCV004553495
• dbSNP Id: rs377741521
• ExAC: 11:67925281 GTCA / G
• gnomAD v2: 11-67925281-GTCA-G
• gnomAD v3: 11-68157814-GTCA-G
• gnomAD v4: 11-68157814-GTCA-G
• MyVariant Identifiers: chr11:g.67925282_67925284del (hg19) ; chr11:g.68157816_68157818del (hg38) ; chr11:g.68157815_68157817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68157822_68157824del , CM000673.2:g.68157822_68157824del	GRCh38
NC_000011.9:g.67925289_67925291del , CM000673.1:g.67925289_67925291del	GRCh37
NC_000011.8:g.67681865_67681867del	NCBI36
NG_052873.1:g.60956_60958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.2316_2318del	ENSP00000406377.2:p.Asp773del
ENST00000524672.3:n.2881_2883del
ENST00000700520.1:c.*2153_*2155del	ENSP00000515027.1:n.*2153_*2155del
ENST00000700521.1:c.*2196_*2198del	ENSP00000515028.1:n.*2196_*2198del
ENST00000700522.1:c.*2196_*2198del	ENSP00000515029.1:n.*2196_*2198del
ENST00000700523.1:c.2013_2015del	ENSP00000515030.1:p.Asp672del
ENST00000700524.1:c.*1737_*1739del	ENSP00000515031.1:n.*1737_*1739del
ENST00000304363.9:c.2529_2531del MANE Select	ENSP00000305899.4:p.Asp844del
ENST00000304363.8:c.2529_2531del	ENSP00000305899.4:p.Asp844del
ENST00000441488.6:c.*1737_*1739del	ENSP00000411146.2:n.*1737_*1739del
ENST00000615954.4:c.2529_2531del	ENSP00000484858.1:p.Asp844del
NM_001300907.1:c.2013_2015del	NP_001287836.1:p.Asp672del
NM_001300908.1:c.1809_1811del	NP_001287837.1:p.Asp604del
NM_017635.4:c.2529_2531del	NP_060105.3:p.Asp844del
XM_005274035.2:c.2529_2531del	XP_005274092.2:p.Asp844del
XM_005274036.2:c.2460_2462del	XP_005274093.2:p.Asp821del
XM_005274037.1:c.2013_2015del	XP_005274094.1:p.Asp672del
XM_006718581.1:c.2460_2462del	XP_006718644.1:p.Asp821del
XM_011545091.1:c.2529_2531del	XP_011543393.1:p.Asp844del
XM_011545092.1:c.2316_2318del	XP_011543394.1:p.Asp773del
XM_011545093.1:c.1287_1289del	XP_011543395.1:p.Asp430del
XM_005274035.4:c.2529_2531del	XP_005274092.2:p.Asp844del
XM_005274036.4:c.2460_2462del	XP_005274093.2:p.Asp821del
XM_006718581.2:c.2460_2462del	XP_006718644.1:p.Asp821del
XM_011545092.3:c.2316_2318del	XP_011543394.1:p.Asp773del
XM_017017876.2:c.2013_2015del	XP_016873365.1:p.Asp672del
XM_017017877.2:c.2013_2015del	XP_016873366.1:p.Asp672del
XM_017017878.2:c.2013_2015del	XP_016873367.1:p.Asp672del
XM_017017879.2:c.2013_2015del	XP_016873368.1:p.Asp672del
XM_024448570.1:c.1287_1289del	XP_024304338.1:p.Asp430del
NM_017635.5:c.2529_2531del MANE Select	NP_060105.3:p.Asp844del
NM_001300908.2:c.1809_1811del	NP_001287837.1:p.Asp604del
NM_001369426.1:c.2529_2531del	NP_001356355.1:p.Asp844del
NM_001369428.1:c.2013_2015del	NP_001356357.1:p.Asp672del
NM_001369429.1:c.2013_2015del	NP_001356358.1:p.Asp672del
NM_001369430.1:c.2013_2015del	NP_001356359.1:p.Asp672del
NM_001369431.1:c.2013_2015del	NP_001356360.1:p.Asp672del
NM_001369432.1:c.2013_2015del	NP_001356361.1:p.Asp672del
NM_001369433.1:c.2013_2015del	NP_001356362.1:p.Asp672del