Canonical Allele Identifier: CA2739267586

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2824783
• ClinVar RCV Id: RCV003643880

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031492dup , CM000679.2:g.46031492dup	GRCh38
NC_000017.10:g.44108858dup , CM000679.1:g.44108858dup	GRCh37
NC_000017.9:g.41464705dup	NCBI36
NG_032784.1:g.198883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3302dup MANE Select	ENSP00000387393.3:p.Thr1103AspfsTer15
ENST00000572904.6:c.3302dup	ENSP00000461484.1:p.Thr1103AspfsTer15
ENST00000574590.6:c.3299dup	ENSP00000461812.2:p.Thr1102AspfsTer15
ENST00000575318.6:c.3110dup	ENSP00000461299.1:p.Thr1039AspfsTer15
ENST00000638275.1:c.3110dup	ENSP00000492576.1:p.Thr1039AspfsTer15
ENST00000648792.1:c.3170dup	ENSP00000497628.1:p.Thr1059AspfsTer15
ENST00000262419.10:c.3302dup	ENSP00000262419.6:p.Thr1103AspfsTer15
ENST00000432791.5:c.3299dup	ENSP00000387393.2:p.Thr1102AspfsTer15
ENST00000572218.5:n.7519dup
ENST00000572904.5:c.3302dup	ENSP00000461484.1:p.Thr1103AspfsTer15
ENST00000574590.5:c.3302dup	ENSP00000461812.1:p.Thr1103AspfsTer15
ENST00000574963.1:n.1075dup
ENST00000575318.5:c.3110dup	ENSP00000461299.1:p.Thr1039AspfsTer15
ENST00000576870.5:n.1274dup
NM_001193465.1:c.3299dup	NP_001180394.1:p.Thr1102AspfsTer15
NM_001193466.1:c.3302dup	NP_001180395.1:p.Thr1103AspfsTer15
NM_015443.3:c.3302dup	NP_056258.1:p.Thr1103AspfsTer15
XM_006721823.1:c.3302dup	XP_006721886.1:p.Thr1103AspfsTer15
XM_006721824.2:c.3302dup	XP_006721887.1:p.Thr1103AspfsTer15
XM_011524628.1:c.3299dup	XP_011522930.1:p.Thr1102AspfsTer15
XM_011524629.1:c.3200dup	XP_011522931.1:p.Thr1069AspfsTer15
XM_011524630.1:c.3113dup	XP_011522932.1:p.Thr1040AspfsTer15
XM_011524631.1:c.3110dup	XP_011522933.1:p.Thr1039AspfsTer15
XM_011524632.1:c.2072dup	XP_011522934.1:p.Thr693AspfsTer15
XM_006721823.2:c.3302dup	XP_006721886.1:p.Thr1103AspfsTer15
XM_006721824.4:c.3302dup	XP_006721887.1:p.Thr1103AspfsTer15
XM_011524628.3:c.3299dup	XP_011522930.1:p.Thr1102AspfsTer15
XM_011524629.3:c.3200dup	XP_011522931.1:p.Thr1069AspfsTer15
XM_011524630.3:c.3113dup	XP_011522932.1:p.Thr1040AspfsTer15
XM_011524631.3:c.3110dup	XP_011522933.1:p.Thr1039AspfsTer15
XM_011524632.3:c.2072dup	XP_011522934.1:p.Thr693AspfsTer15
XM_017024488.2:c.3110dup	XP_016879977.1:p.Thr1039AspfsTer15
NM_001193466.2:c.3302dup	NP_001180395.1:p.Thr1103AspfsTer15
NM_015443.4:c.3302dup MANE Select	NP_056258.1:p.Thr1103AspfsTer15
NM_001193465.2:c.3299dup	NP_001180394.1:p.Thr1102AspfsTer15
NM_001379198.1:c.3302dup	NP_001366127.1:p.Thr1103AspfsTer15