Canonical Allele Identifier: CA291128164

Gene: KANSL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46034286C>T , CM000679.2:g.46034286C>T	GRCh38
NC_000017.10:g.44111652C>T , CM000679.1:g.44111652C>T	GRCh37
NC_000017.9:g.41467499C>T	NCBI36
NG_032784.1:g.196089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2542-1G>A MANE Select	ENSP00000387393.3:n.2542-1G>A
ENST00000572904.6:c.2542-1G>A	ENSP00000461484.1:n.2542-1G>A
ENST00000574590.6:c.2542-4G>A	ENSP00000461812.2:n.2542-4G>A
ENST00000575318.6:c.2353-4G>A	ENSP00000461299.1:n.2353-4G>A
ENST00000576137.2:n.539-1G>A
ENST00000638275.1:c.2353-4G>A	ENSP00000492576.1:n.2353-4G>A
ENST00000638291.1:n.370-1G>A
ENST00000638551.1:n.490-1G>A
ENST00000639150.1:c.1276-1G>A	ENSP00000491906.1:n.1276-1G>A
ENST00000639467.1:c.205-7G>A	ENSP00000492741.1:n.205-7G>A
ENST00000639531.1:c.2353-1G>A	ENSP00000491765.1:n.2353-1G>A
ENST00000640092.1:n.1228G>A
ENST00000640519.1:n.1639G>A
ENST00000640636.1:c.495-7G>A
ENST00000640751.1:n.140-4G>A
ENST00000648792.1:c.2542-1G>A	ENSP00000497628.1:n.2542-1G>A
ENST00000262419.10:c.2542-1G>A	ENSP00000262419.6:n.2542-1G>A
ENST00000432791.5:c.2542-4G>A	ENSP00000387393.2:n.2542-4G>A
ENST00000572218.5:n.6759-1G>A
ENST00000572904.5:c.2542-1G>A	ENSP00000461484.1:n.2542-1G>A
ENST00000574590.5:c.2542-1G>A	ENSP00000461812.1:n.2542-1G>A
ENST00000575318.5:c.2353-4G>A	ENSP00000461299.1:n.2353-4G>A
ENST00000576137.1:n.181-1G>A
ENST00000576870.5:n.514-1G>A
NM_001193465.1:c.2542-4G>A	NP_001180394.1:n.2542-4G>A
NM_001193466.1:c.2542-1G>A	NP_001180395.1:n.2542-1G>A
NM_015443.3:c.2542-1G>A	NP_056258.1:n.2542-1G>A
XM_006721823.1:c.2542-1G>A	XP_006721886.1:n.2542-1G>A
XM_006721824.2:c.2542-1G>A	XP_006721887.1:n.2542-1G>A
XM_011524628.1:c.2542-4G>A	XP_011522930.1:n.2542-4G>A
XM_011524629.1:c.2440-1G>A	XP_011522931.1:n.2440-1G>A
XM_011524630.1:c.2353-1G>A	XP_011522932.1:n.2353-1G>A
XM_011524631.1:c.2353-4G>A	XP_011522933.1:n.2353-4G>A
XM_011524632.1:c.1312-1G>A	XP_011522934.1:n.1312-1G>A
XM_006721823.2:c.2542-1G>A	XP_006721886.1:n.2542-1G>A
XM_006721824.4:c.2542-1G>A	XP_006721887.1:n.2542-1G>A
XM_011524628.3:c.2542-4G>A	XP_011522930.1:n.2542-4G>A
XM_011524629.3:c.2440-1G>A	XP_011522931.1:n.2440-1G>A
XM_011524630.3:c.2353-1G>A	XP_011522932.1:n.2353-1G>A
XM_011524631.3:c.2353-4G>A	XP_011522933.1:n.2353-4G>A
XM_011524632.3:c.1312-1G>A	XP_011522934.1:n.1312-1G>A
XM_017024488.2:c.2353-4G>A	XP_016879977.1:n.2353-4G>A
NM_001193466.2:c.2542-1G>A	NP_001180395.1:n.2542-1G>A
NM_015443.4:c.2542-1G>A MANE Select	NP_056258.1:n.2542-1G>A
NM_001193465.2:c.2542-4G>A	NP_001180394.1:n.2542-4G>A
NM_001379198.1:c.2542-1G>A	NP_001366127.1:n.2542-1G>A