Canonical Allele Identifier: CA2638380142

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46038573-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038575_46038576dup , CM000679.2:g.46038575_46038576dup	GRCh38
NC_000017.10:g.44115941_44115942dup , CM000679.1:g.44115941_44115942dup	GRCh37
NC_000017.9:g.41471788_41471789dup	NCBI36
NG_032784.1:g.191800_191801dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2504_2505dup MANE Select	ENSP00000387393.3:p.Ala836ProfsTer17
ENST00000572904.6:c.2504_2505dup	ENSP00000461484.1:p.Ala836ProfsTer17
ENST00000573286.2:n.4187_4188dup
ENST00000574590.6:c.2504_2505dup	ENSP00000461812.2:p.Ala836ProfsTer16
ENST00000575318.6:c.2315_2316dup	ENSP00000461299.1:p.Ala773ProfsTer16
ENST00000576137.2:n.501_502dup
ENST00000638275.1:c.2315_2316dup	ENSP00000492576.1:p.Ala773ProfsTer16
ENST00000639150.1:c.1238_1239dup	ENSP00000491906.1:p.Ala414ProfsTer17
ENST00000639467.1:c.167_168dup	ENSP00000492741.1:p.Ala57ProfsTer15
ENST00000639531.1:c.2315_2316dup	ENSP00000491765.1:p.Ala773ProfsTer17
ENST00000640636.1:c.457_458dup
ENST00000648792.1:c.2504_2505dup	ENSP00000497628.1:p.Ala836ProfsTer17
ENST00000262419.10:c.2504_2505dup	ENSP00000262419.6:p.Ala836ProfsTer17
ENST00000432791.5:c.2504_2505dup	ENSP00000387393.2:p.Ala836ProfsTer16
ENST00000572218.5:n.6721_6722dup
ENST00000572904.5:c.2504_2505dup	ENSP00000461484.1:p.Ala836ProfsTer17
ENST00000573286.1:n.360_361dup
ENST00000574590.5:c.2504_2505dup	ENSP00000461812.1:p.Ala836ProfsTer17
ENST00000575318.5:c.2315_2316dup	ENSP00000461299.1:p.Ala773ProfsTer16
ENST00000576137.1:n.143_144dup
ENST00000576870.5:n.476_477dup
NM_001193465.1:c.2504_2505dup	NP_001180394.1:p.Ala836ProfsTer16
NM_001193466.1:c.2504_2505dup	NP_001180395.1:p.Ala836ProfsTer17
NM_015443.3:c.2504_2505dup	NP_056258.1:p.Ala836ProfsTer17
XM_006721823.1:c.2504_2505dup	XP_006721886.1:p.Ala836ProfsTer17
XM_006721824.2:c.2504_2505dup	XP_006721887.1:p.Ala836ProfsTer17
XM_011524628.1:c.2504_2505dup	XP_011522930.1:p.Ala836ProfsTer16
XM_011524629.1:c.2402_2403dup	XP_011522931.1:p.Ala802ProfsTer17
XM_011524630.1:c.2315_2316dup	XP_011522932.1:p.Ala773ProfsTer17
XM_011524631.1:c.2315_2316dup	XP_011522933.1:p.Ala773ProfsTer16
XM_011524632.1:c.1274_1275dup	XP_011522934.1:p.Ala426ProfsTer17
XM_006721823.2:c.2504_2505dup	XP_006721886.1:p.Ala836ProfsTer17
XM_006721824.4:c.2504_2505dup	XP_006721887.1:p.Ala836ProfsTer17
XM_011524628.3:c.2504_2505dup	XP_011522930.1:p.Ala836ProfsTer16
XM_011524629.3:c.2402_2403dup	XP_011522931.1:p.Ala802ProfsTer17
XM_011524630.3:c.2315_2316dup	XP_011522932.1:p.Ala773ProfsTer17
XM_011524631.3:c.2315_2316dup	XP_011522933.1:p.Ala773ProfsTer16
XM_011524632.3:c.1274_1275dup	XP_011522934.1:p.Ala426ProfsTer17
XM_017024488.2:c.2315_2316dup	XP_016879977.1:p.Ala773ProfsTer16
XM_017024489.1:c.2402_2403dup	XP_016879978.1:p.Ala802ProfsTer14
NM_001193466.2:c.2504_2505dup	NP_001180395.1:p.Ala836ProfsTer17
NM_015443.4:c.2504_2505dup MANE Select	NP_056258.1:p.Ala836ProfsTer17
NM_001193465.2:c.2504_2505dup	NP_001180394.1:p.Ala836ProfsTer16
NM_001379198.1:c.2504_2505dup	NP_001366127.1:p.Ala836ProfsTer17