Canonical Allele Identifier: CA2809640687

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032270dup , CM000679.2:g.46032270dup	GRCh38
NC_000017.10:g.44109636dup , CM000679.1:g.44109636dup	GRCh37
NC_000017.9:g.41465483dup	NCBI36
NG_032784.1:g.198110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2872dup MANE Select	ENSP00000387393.3:p.Gln958ProfsTer16
ENST00000572904.6:c.2872dup	ENSP00000461484.1:p.Gln958ProfsTer16
ENST00000574590.6:c.2869dup	ENSP00000461812.2:p.Gln957ProfsTer16
ENST00000575318.6:c.2680dup	ENSP00000461299.1:p.Gln894ProfsTer16
ENST00000638275.1:c.2680dup	ENSP00000492576.1:p.Gln894ProfsTer16
ENST00000638291.1:n.700dup
ENST00000638551.1:n.820dup
ENST00000639467.1:c.529dup	ENSP00000492741.1:p.Gln177ProfsTer16
ENST00000639531.1:c.2683dup	ENSP00000491765.1:p.Gln895ProfsTer?
ENST00000639805.1:n.289dup
ENST00000648792.1:c.2838-98dup	ENSP00000497628.1:n.2838-98dup
ENST00000262419.10:c.2872dup	ENSP00000262419.6:p.Gln958ProfsTer16
ENST00000432791.5:c.2869dup	ENSP00000387393.2:p.Gln957ProfsTer16
ENST00000572218.5:n.7089dup
ENST00000572904.5:c.2872dup	ENSP00000461484.1:p.Gln958ProfsTer16
ENST00000573682.1:n.258dup
ENST00000574590.5:c.2872dup	ENSP00000461812.1:p.Gln958ProfsTer16
ENST00000574963.1:n.302dup
ENST00000575318.5:c.2680dup	ENSP00000461299.1:p.Gln894ProfsTer16
ENST00000576870.5:n.844dup
NM_001193465.1:c.2869dup	NP_001180394.1:p.Gln957ProfsTer16
NM_001193466.1:c.2872dup	NP_001180395.1:p.Gln958ProfsTer16
NM_015443.3:c.2872dup	NP_056258.1:p.Gln958ProfsTer16
XM_006721823.1:c.2872dup	XP_006721886.1:p.Gln958ProfsTer16
XM_006721824.2:c.2872dup	XP_006721887.1:p.Gln958ProfsTer16
XM_011524628.1:c.2869dup	XP_011522930.1:p.Gln957ProfsTer16
XM_011524629.1:c.2770dup	XP_011522931.1:p.Gln924ProfsTer16
XM_011524630.1:c.2683dup	XP_011522932.1:p.Gln895ProfsTer16
XM_011524631.1:c.2680dup	XP_011522933.1:p.Gln894ProfsTer16
XM_011524632.1:c.1642dup	XP_011522934.1:p.Gln548ProfsTer16
XM_006721823.2:c.2872dup	XP_006721886.1:p.Gln958ProfsTer16
XM_006721824.4:c.2872dup	XP_006721887.1:p.Gln958ProfsTer16
XM_011524628.3:c.2869dup	XP_011522930.1:p.Gln957ProfsTer16
XM_011524629.3:c.2770dup	XP_011522931.1:p.Gln924ProfsTer16
XM_011524630.3:c.2683dup	XP_011522932.1:p.Gln895ProfsTer16
XM_011524631.3:c.2680dup	XP_011522933.1:p.Gln894ProfsTer16
XM_011524632.3:c.1642dup	XP_011522934.1:p.Gln548ProfsTer16
XM_017024488.2:c.2680dup	XP_016879977.1:p.Gln894ProfsTer16
NM_001193466.2:c.2872dup	NP_001180395.1:p.Gln958ProfsTer16
NM_015443.4:c.2872dup MANE Select	NP_056258.1:p.Gln958ProfsTer16
NM_001193465.2:c.2869dup	NP_001180394.1:p.Gln957ProfsTer16
NM_001379198.1:c.2872dup	NP_001366127.1:p.Gln958ProfsTer16