Canonical Allele Identifier: CA2262127307

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46066419_46066420delinsTC , CM000679.2:g.46066419_46066420delinsTC	GRCh38
NC_000017.10:g.44143785_44143786delinsTC , CM000679.1:g.44143785_44143786delinsTC	GRCh37
NC_000017.9:g.41499607_41499608delinsTC	NCBI36
NG_032784.1:g.163955_163956delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.1848+117_1848+118delinsGA MANE Select	ENSP00000387393.3:n.1848+117_1848+118delinsGA
ENST00000571698.2:c.1848+117_1848+118delinsGA	ENSP00000459330.2:n.1848+117_1848+118delinsGA
ENST00000572904.6:c.1848+117_1848+118delinsGA	ENSP00000461484.1:n.1848+117_1848+118delinsGA
ENST00000574590.6:c.1848+117_1848+118delinsGA	ENSP00000461812.2:n.1848+117_1848+118delinsGA
ENST00000575318.6:c.1848+117_1848+118delinsGA	ENSP00000461299.1:n.1848+117_1848+118delinsGA
ENST00000577114.2:n.574+117_574+118delinsGA
ENST00000638275.1:c.1848+117_1848+118delinsGA	ENSP00000492576.1:n.1848+117_1848+118delinsGA
ENST00000639150.1:c.582+117_582+118delinsGA	ENSP00000491906.1:n.582+117_582+118delinsGA
ENST00000639375.1:n.2086+117_2086+118delinsGA
ENST00000639531.1:c.1848+117_1848+118delinsGA	ENSP00000491765.1:n.1848+117_1848+118delinsGA
ENST00000639853.1:c.1019+117_1019+118delinsGA
ENST00000648792.1:c.1848+117_1848+118delinsGA	ENSP00000497628.1:n.1848+117_1848+118delinsGA
ENST00000262419.10:c.1848+117_1848+118delinsGA	ENSP00000262419.6:n.1848+117_1848+118delinsGA
ENST00000432791.5:c.1848+117_1848+118delinsGA	ENSP00000387393.2:n.1848+117_1848+118delinsGA
ENST00000572904.5:c.1848+117_1848+118delinsGA	ENSP00000461484.1:n.1848+117_1848+118delinsGA
ENST00000574590.5:c.1848+117_1848+118delinsGA	ENSP00000461812.1:n.1848+117_1848+118delinsGA
ENST00000575318.5:c.1848+117_1848+118delinsGA	ENSP00000461299.1:n.1848+117_1848+118delinsGA
ENST00000577114.1:n.645+117_645+118delinsGA
NM_001193465.1:c.1848+117_1848+118delinsGA	NP_001180394.1:n.1848+117_1848+118delinsGA
NM_001193466.1:c.1848+117_1848+118delinsGA	NP_001180395.1:n.1848+117_1848+118delinsGA
NM_015443.3:c.1848+117_1848+118delinsGA	NP_056258.1:n.1848+117_1848+118delinsGA
XM_006721823.1:c.1848+117_1848+118delinsGA	XP_006721886.1:n.1848+117_1848+118delinsGA
XM_006721824.2:c.1848+117_1848+118delinsGA	XP_006721887.1:n.1848+117_1848+118delinsGA
XM_011524628.1:c.1848+117_1848+118delinsGA	XP_011522930.1:n.1848+117_1848+118delinsGA
XM_011524629.1:c.1746+117_1746+118delinsGA	XP_011522931.1:n.1746+117_1746+118delinsGA
XM_011524630.1:c.1848+117_1848+118delinsGA	XP_011522932.1:n.1848+117_1848+118delinsGA
XM_011524631.1:c.1848+117_1848+118delinsGA	XP_011522933.1:n.1848+117_1848+118delinsGA
XM_011524632.1:c.618+117_618+118delinsGA	XP_011522934.1:n.618+117_618+118delinsGA
XM_006721823.2:c.1848+117_1848+118delinsGA	XP_006721886.1:n.1848+117_1848+118delinsGA
XM_006721824.4:c.1848+117_1848+118delinsGA	XP_006721887.1:n.1848+117_1848+118delinsGA
XM_011524628.3:c.1848+117_1848+118delinsGA	XP_011522930.1:n.1848+117_1848+118delinsGA
XM_011524629.3:c.1746+117_1746+118delinsGA	XP_011522931.1:n.1746+117_1746+118delinsGA
XM_011524630.3:c.1848+117_1848+118delinsGA	XP_011522932.1:n.1848+117_1848+118delinsGA
XM_011524631.3:c.1848+117_1848+118delinsGA	XP_011522933.1:n.1848+117_1848+118delinsGA
XM_011524632.3:c.618+117_618+118delinsGA	XP_011522934.1:n.618+117_618+118delinsGA
XM_017024488.2:c.1848+117_1848+118delinsGA	XP_016879977.1:n.1848+117_1848+118delinsGA
XM_017024489.1:c.1746+117_1746+118delinsGA	XP_016879978.1:n.1746+117_1746+118delinsGA
NM_001193466.2:c.1848+117_1848+118delinsGA	NP_001180395.1:n.1848+117_1848+118delinsGA
NM_015443.4:c.1848+117_1848+118delinsGA MANE Select	NP_056258.1:n.1848+117_1848+118delinsGA
NM_001193465.2:c.1848+117_1848+118delinsGA	NP_001180394.1:n.1848+117_1848+118delinsGA
NM_001379198.1:c.1848+117_1848+118delinsGA	NP_001366127.1:n.1848+117_1848+118delinsGA