Canonical Allele Identifier: CA1139665667

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 936637
• ClinVar RCV Id: RCV001205472
• dbSNP Id: rs2078387202

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46066616_46066617delinsCT , CM000679.2:g.46066616_46066617delinsCT	GRCh38
NC_000017.10:g.44143982_44143983delinsCT , CM000679.1:g.44143982_44143983delinsCT	GRCh37
NC_000017.9:g.41499804_41499805delinsCT	NCBI36
NG_032784.1:g.163758_163759delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.1768_1769delinsAG MANE Select	ENSP00000387393.3:p.Ala590Arg
ENST00000571698.2:c.1768_1769delinsAG	ENSP00000459330.2:p.Ala590Arg
ENST00000572904.6:c.1768_1769delinsAG	ENSP00000461484.1:p.Ala590Arg
ENST00000574590.6:c.1768_1769delinsAG	ENSP00000461812.2:p.Ala590Arg
ENST00000575318.6:c.1768_1769delinsAG	ENSP00000461299.1:p.Ala590Arg
ENST00000577114.2:n.494_495delinsAG
ENST00000638275.1:c.1768_1769delinsAG	ENSP00000492576.1:p.Ala590Arg
ENST00000639150.1:c.502_503delinsAG	ENSP00000491906.1:p.Ala168Arg
ENST00000639375.1:n.2006_2007delinsAG
ENST00000639531.1:c.1768_1769delinsAG	ENSP00000491765.1:p.Ala590Arg
ENST00000639853.1:c.939_940delinsAG
ENST00000648792.1:c.1768_1769delinsAG	ENSP00000497628.1:p.Ala590Arg
ENST00000262419.10:c.1768_1769delinsAG	ENSP00000262419.6:p.Ala590Arg
ENST00000432791.5:c.1768_1769delinsAG	ENSP00000387393.2:p.Ala590Arg
ENST00000572904.5:c.1768_1769delinsAG	ENSP00000461484.1:p.Ala590Arg
ENST00000574590.5:c.1768_1769delinsAG	ENSP00000461812.1:p.Ala590Arg
ENST00000575318.5:c.1768_1769delinsAG	ENSP00000461299.1:p.Ala590Arg
ENST00000577114.1:n.565_566delinsAG
NM_001193465.1:c.1768_1769delinsAG	NP_001180394.1:p.Ala590Arg
NM_001193466.1:c.1768_1769delinsAG	NP_001180395.1:p.Ala590Arg
NM_015443.3:c.1768_1769delinsAG	NP_056258.1:p.Ala590Arg
XM_006721823.1:c.1768_1769delinsAG	XP_006721886.1:p.Ala590Arg
XM_006721824.2:c.1768_1769delinsAG	XP_006721887.1:p.Ala590Arg
XM_011524628.1:c.1768_1769delinsAG	XP_011522930.1:p.Ala590Arg
XM_011524629.1:c.1666_1667delinsAG	XP_011522931.1:p.Ala556Arg
XM_011524630.1:c.1768_1769delinsAG	XP_011522932.1:p.Ala590Arg
XM_011524631.1:c.1768_1769delinsAG	XP_011522933.1:p.Ala590Arg
XM_011524632.1:c.538_539delinsAG	XP_011522934.1:p.Ala180Arg
XM_006721823.2:c.1768_1769delinsAG	XP_006721886.1:p.Ala590Arg
XM_006721824.4:c.1768_1769delinsAG	XP_006721887.1:p.Ala590Arg
XM_011524628.3:c.1768_1769delinsAG	XP_011522930.1:p.Ala590Arg
XM_011524629.3:c.1666_1667delinsAG	XP_011522931.1:p.Ala556Arg
XM_011524630.3:c.1768_1769delinsAG	XP_011522932.1:p.Ala590Arg
XM_011524631.3:c.1768_1769delinsAG	XP_011522933.1:p.Ala590Arg
XM_011524632.3:c.538_539delinsAG	XP_011522934.1:p.Ala180Arg
XM_017024488.2:c.1768_1769delinsAG	XP_016879977.1:p.Ala590Arg
XM_017024489.1:c.1666_1667delinsAG	XP_016879978.1:p.Ala556Arg
NM_001193466.2:c.1768_1769delinsAG	NP_001180395.1:p.Ala590Arg
NM_015443.4:c.1768_1769delinsAG MANE Select	NP_056258.1:p.Ala590Arg
NM_001193465.2:c.1768_1769delinsAG	NP_001180394.1:p.Ala590Arg
NM_001379198.1:c.1768_1769delinsAG	NP_001366127.1:p.Ala590Arg