Canonical Allele Identifier: CA2580613153

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2504175
• ClinVar RCV Id: RCV003232964

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46039026_46039027dup , CM000679.2:g.46039026_46039027dup	GRCh38
NC_000017.10:g.44116392_44116393dup , CM000679.1:g.44116392_44116393dup	GRCh37
NC_000017.9:g.41472239_41472240dup	NCBI36
NG_032784.1:g.191348_191349dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2392_2392+1dup
ENST00000572904.6:c.2392_2392+1dup
ENST00000573286.2:n.4075_4075+1dup
ENST00000574590.6:c.2392_2392+1dup
ENST00000575318.6:c.2204-341_2204-340dup	ENSP00000461299.1:n.2204-341_2204-340dup
ENST00000576137.2:n.49_50dup
ENST00000638275.1:c.2204-341_2204-340dup	ENSP00000492576.1:n.2204-341_2204-340dup
ENST00000639150.1:c.1126_1126+1dup
ENST00000639467.1:c.55_55+1dup
ENST00000639531.1:c.2204-341_2204-340dup	ENSP00000491765.1:n.2204-341_2204-340dup
ENST00000639853.1:c.1375-341_1375-340dup
ENST00000640636.1:c.346-341_346-340dup
ENST00000648792.1:c.2392_2392+1dup
ENST00000262419.10:c.2392_2392+1dup
ENST00000432791.5:c.2392_2392+1dup
ENST00000572218.5:n.6609_6609+1dup
ENST00000572679.1:n.524_524+1dup
ENST00000572904.5:c.2392_2392+1dup
ENST00000573286.1:n.248_248+1dup
ENST00000574590.5:c.2392_2392+1dup
ENST00000575318.5:c.2204-341_2204-340dup	ENSP00000461299.1:n.2204-341_2204-340dup
ENST00000576870.5:n.365-341_365-340dup
NM_001193465.1:c.2392_2392+1dup
NM_001193466.1:c.2392_2392+1dup
NM_015443.3:c.2392_2392+1dup
XM_006721823.1:c.2392_2392+1dup
XM_006721824.2:c.2392_2392+1dup
XM_011524628.1:c.2392_2392+1dup
XM_011524629.1:c.2290_2290+1dup
XM_011524630.1:c.2204-341_2204-340dup	XP_011522932.1:n.2204-341_2204-340dup
XM_011524631.1:c.2204-341_2204-340dup	XP_011522933.1:n.2204-341_2204-340dup
XM_011524632.1:c.1162_1162+1dup
XM_006721823.2:c.2392_2392+1dup
XM_006721824.4:c.2392_2392+1dup
XM_011524628.3:c.2392_2392+1dup
XM_011524629.3:c.2290_2290+1dup
XM_011524630.3:c.2204-341_2204-340dup	XP_011522932.1:n.2204-341_2204-340dup
XM_011524631.3:c.2204-341_2204-340dup	XP_011522933.1:n.2204-341_2204-340dup
XM_011524632.3:c.1162_1162+1dup
XM_017024488.2:c.2204-341_2204-340dup	XP_016879977.1:n.2204-341_2204-340dup
XM_017024489.1:c.2290_2290+1dup
NM_001193466.2:c.2392_2392+1dup
NM_015443.4:c.2392_2392+1dup
NM_001193465.2:c.2392_2392+1dup
NM_001379198.1:c.2392_2392+1dup