Canonical Allele Identifier: CA6148006

Gene: KMT5B

Linked Data

• dbSNP Id: rs749955049
• ExAC: 11:67925320 AGAG / A
• gnomAD v2: 11-67925320-AGAG-A
• gnomAD v3: 11-68157853-AGAG-A
• gnomAD v4: 11-68157853-AGAG-A
• MyVariant Identifiers: chr11:g.67925321_67925323del (hg19) ; chr11:g.68157854_68157856del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68157859_68157861del , CM000673.2:g.68157859_68157861del	GRCh38
NC_000011.9:g.67925326_67925328del , CM000673.1:g.67925326_67925328del	GRCh37
NC_000011.8:g.67681902_67681904del	NCBI36
NG_052873.1:g.60917_60919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.2277_2279del	ENSP00000406377.2:p.Ser760del
ENST00000524672.3:n.2842_2844del
ENST00000700520.1:c.*2114_*2116del	ENSP00000515027.1:n.*2114_*2116del
ENST00000700521.1:c.*2157_*2159del	ENSP00000515028.1:n.*2157_*2159del
ENST00000700522.1:c.*2157_*2159del	ENSP00000515029.1:n.*2157_*2159del
ENST00000700523.1:c.1974_1976del	ENSP00000515030.1:p.Ser659del
ENST00000700524.1:c.*1698_*1700del	ENSP00000515031.1:n.*1698_*1700del
ENST00000304363.9:c.2490_2492del MANE Select	ENSP00000305899.4:p.Ser831del
ENST00000304363.8:c.2490_2492del	ENSP00000305899.4:p.Ser831del
ENST00000441488.6:c.*1698_*1700del	ENSP00000411146.2:n.*1698_*1700del
ENST00000615954.4:c.2490_2492del	ENSP00000484858.1:p.Ser831del
NM_001300907.1:c.1974_1976del	NP_001287836.1:p.Ser659del
NM_001300908.1:c.1770_1772del	NP_001287837.1:p.Ser591del
NM_017635.4:c.2490_2492del	NP_060105.3:p.Ser831del
XM_005274035.2:c.2490_2492del	XP_005274092.2:p.Ser831del
XM_005274036.2:c.2421_2423del	XP_005274093.2:p.Ser808del
XM_005274037.1:c.1974_1976del	XP_005274094.1:p.Ser659del
XM_006718581.1:c.2421_2423del	XP_006718644.1:p.Ser808del
XM_011545091.1:c.2490_2492del	XP_011543393.1:p.Ser831del
XM_011545092.1:c.2277_2279del	XP_011543394.1:p.Ser760del
XM_011545093.1:c.1248_1250del	XP_011543395.1:p.Ser417del
XM_005274035.4:c.2490_2492del	XP_005274092.2:p.Ser831del
XM_005274036.4:c.2421_2423del	XP_005274093.2:p.Ser808del
XM_006718581.2:c.2421_2423del	XP_006718644.1:p.Ser808del
XM_011545092.3:c.2277_2279del	XP_011543394.1:p.Ser760del
XM_017017876.2:c.1974_1976del	XP_016873365.1:p.Ser659del
XM_017017877.2:c.1974_1976del	XP_016873366.1:p.Ser659del
XM_017017878.2:c.1974_1976del	XP_016873367.1:p.Ser659del
XM_017017879.2:c.1974_1976del	XP_016873368.1:p.Ser659del
XM_024448570.1:c.1248_1250del	XP_024304338.1:p.Ser417del
NM_017635.5:c.2490_2492del MANE Select	NP_060105.3:p.Ser831del
NM_001300908.2:c.1770_1772del	NP_001287837.1:p.Ser591del
NM_001369426.1:c.2490_2492del	NP_001356355.1:p.Ser831del
NM_001369428.1:c.1974_1976del	NP_001356357.1:p.Ser659del
NM_001369429.1:c.1974_1976del	NP_001356358.1:p.Ser659del
NM_001369430.1:c.1974_1976del	NP_001356359.1:p.Ser659del
NM_001369431.1:c.1974_1976del	NP_001356360.1:p.Ser659del
NM_001369432.1:c.1974_1976del	NP_001356361.1:p.Ser659del
NM_001369433.1:c.1974_1976del	NP_001356362.1:p.Ser659del