Canonical Allele Identifier: CA6148042

Gene: KMT5B

Linked Data

• ClinVar Variation Id: 1401661
• ClinVar RCV Id: RCV001913019
• dbSNP Id: rs765948681
• ExAC: 11:67925627 TTGC / T
• gnomAD v2: 11-67925627-TTGC-T
• gnomAD v3: 11-68158160-TTGC-T
• gnomAD v4: 11-68158160-TTGC-T
• MyVariant Identifiers: chr11:g.67925628_67925630del (hg19) ; chr11:g.68158162_68158164del (hg38) ; chr11:g.68158161_68158163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68158168_68158170del , CM000673.2:g.68158168_68158170del	GRCh38
NC_000011.9:g.67925635_67925637del , CM000673.1:g.67925635_67925637del	GRCh37
NC_000011.8:g.67682211_67682213del	NCBI36
NG_052873.1:g.60610_60612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.1970_1972del	ENSP00000406377.2:p.Ser657del
ENST00000524672.3:n.2535_2537del
ENST00000700520.1:c.*1807_*1809del	ENSP00000515027.1:n.*1807_*1809del
ENST00000700521.1:c.*1850_*1852del	ENSP00000515028.1:n.*1850_*1852del
ENST00000700522.1:c.*1850_*1852del	ENSP00000515029.1:n.*1850_*1852del
ENST00000700523.1:c.1667_1669del	ENSP00000515030.1:p.Ser556del
ENST00000700524.1:c.*1391_*1393del	ENSP00000515031.1:n.*1391_*1393del
ENST00000304363.9:c.2183_2185del MANE Select	ENSP00000305899.4:p.Ser728del
ENST00000304363.8:c.2183_2185del	ENSP00000305899.4:p.Ser728del
ENST00000441488.6:c.*1391_*1393del	ENSP00000411146.2:n.*1391_*1393del
ENST00000615954.4:c.2183_2185del	ENSP00000484858.1:p.Ser728del
NM_001300907.1:c.1667_1669del	NP_001287836.1:p.Ser556del
NM_001300908.1:c.1463_1465del	NP_001287837.1:p.Ser488del
NM_017635.4:c.2183_2185del	NP_060105.3:p.Ser728del
XM_005274035.2:c.2183_2185del	XP_005274092.2:p.Ser728del
XM_005274036.2:c.2114_2116del	XP_005274093.2:p.Ser705del
XM_005274037.1:c.1667_1669del	XP_005274094.1:p.Ser556del
XM_006718581.1:c.2114_2116del	XP_006718644.1:p.Ser705del
XM_011545091.1:c.2183_2185del	XP_011543393.1:p.Ser728del
XM_011545092.1:c.1970_1972del	XP_011543394.1:p.Ser657del
XM_011545093.1:c.941_943del	XP_011543395.1:p.Ser314del
XM_005274035.4:c.2183_2185del	XP_005274092.2:p.Ser728del
XM_005274036.4:c.2114_2116del	XP_005274093.2:p.Ser705del
XM_006718581.2:c.2114_2116del	XP_006718644.1:p.Ser705del
XM_011545092.3:c.1970_1972del	XP_011543394.1:p.Ser657del
XM_017017876.2:c.1667_1669del	XP_016873365.1:p.Ser556del
XM_017017877.2:c.1667_1669del	XP_016873366.1:p.Ser556del
XM_017017878.2:c.1667_1669del	XP_016873367.1:p.Ser556del
XM_017017879.2:c.1667_1669del	XP_016873368.1:p.Ser556del
XM_024448570.1:c.941_943del	XP_024304338.1:p.Ser314del
NM_017635.5:c.2183_2185del MANE Select	NP_060105.3:p.Ser728del
NM_001300908.2:c.1463_1465del	NP_001287837.1:p.Ser488del
NM_001369426.1:c.2183_2185del	NP_001356355.1:p.Ser728del
NM_001369428.1:c.1667_1669del	NP_001356357.1:p.Ser556del
NM_001369429.1:c.1667_1669del	NP_001356358.1:p.Ser556del
NM_001369430.1:c.1667_1669del	NP_001356359.1:p.Ser556del
NM_001369431.1:c.1667_1669del	NP_001356360.1:p.Ser556del
NM_001369432.1:c.1667_1669del	NP_001356361.1:p.Ser556del
NM_001369433.1:c.1667_1669del	NP_001356362.1:p.Ser556del