Canonical Allele Identifier: CA2741538952

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038614_46038615dup , CM000679.2:g.46038614_46038615dup	GRCh38
NC_000017.10:g.44115980_44115981dup , CM000679.1:g.44115980_44115981dup	GRCh37
NC_000017.9:g.41471827_41471828dup	NCBI36
NG_032784.1:g.191760_191761dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2464_2465dup MANE Select	ENSP00000387393.3:p.Leu822PhefsTer31
ENST00000572904.6:c.2464_2465dup	ENSP00000461484.1:p.Leu822PhefsTer31
ENST00000573286.2:n.4147_4148dup
ENST00000574590.6:c.2464_2465dup	ENSP00000461812.2:p.Leu822PhefsTer30
ENST00000575318.6:c.2275_2276dup	ENSP00000461299.1:p.Leu759PhefsTer30
ENST00000576137.2:n.461_462dup
ENST00000638275.1:c.2275_2276dup	ENSP00000492576.1:p.Leu759PhefsTer30
ENST00000639150.1:c.1198_1199dup	ENSP00000491906.1:p.Leu400PhefsTer31
ENST00000639467.1:c.127_128dup	ENSP00000492741.1:p.Leu43PhefsTer29
ENST00000639531.1:c.2275_2276dup	ENSP00000491765.1:p.Leu759PhefsTer31
ENST00000640636.1:c.417_418dup
ENST00000648792.1:c.2464_2465dup	ENSP00000497628.1:p.Leu822PhefsTer31
ENST00000262419.10:c.2464_2465dup	ENSP00000262419.6:p.Leu822PhefsTer31
ENST00000432791.5:c.2464_2465dup	ENSP00000387393.2:p.Leu822PhefsTer30
ENST00000572218.5:n.6681_6682dup
ENST00000572904.5:c.2464_2465dup	ENSP00000461484.1:p.Leu822PhefsTer31
ENST00000573286.1:n.320_321dup
ENST00000574590.5:c.2464_2465dup	ENSP00000461812.1:p.Leu822PhefsTer31
ENST00000575318.5:c.2275_2276dup	ENSP00000461299.1:p.Leu759PhefsTer30
ENST00000576137.1:n.103_104dup
ENST00000576870.5:n.436_437dup
NM_001193465.1:c.2464_2465dup	NP_001180394.1:p.Leu822PhefsTer30
NM_001193466.1:c.2464_2465dup	NP_001180395.1:p.Leu822PhefsTer31
NM_015443.3:c.2464_2465dup	NP_056258.1:p.Leu822PhefsTer31
XM_006721823.1:c.2464_2465dup	XP_006721886.1:p.Leu822PhefsTer31
XM_006721824.2:c.2464_2465dup	XP_006721887.1:p.Leu822PhefsTer31
XM_011524628.1:c.2464_2465dup	XP_011522930.1:p.Leu822PhefsTer30
XM_011524629.1:c.2362_2363dup	XP_011522931.1:p.Leu788PhefsTer31
XM_011524630.1:c.2275_2276dup	XP_011522932.1:p.Leu759PhefsTer31
XM_011524631.1:c.2275_2276dup	XP_011522933.1:p.Leu759PhefsTer30
XM_011524632.1:c.1234_1235dup	XP_011522934.1:p.Leu412PhefsTer31
XM_006721823.2:c.2464_2465dup	XP_006721886.1:p.Leu822PhefsTer31
XM_006721824.4:c.2464_2465dup	XP_006721887.1:p.Leu822PhefsTer31
XM_011524628.3:c.2464_2465dup	XP_011522930.1:p.Leu822PhefsTer30
XM_011524629.3:c.2362_2363dup	XP_011522931.1:p.Leu788PhefsTer31
XM_011524630.3:c.2275_2276dup	XP_011522932.1:p.Leu759PhefsTer31
XM_011524631.3:c.2275_2276dup	XP_011522933.1:p.Leu759PhefsTer30
XM_011524632.3:c.1234_1235dup	XP_011522934.1:p.Leu412PhefsTer31
XM_017024488.2:c.2275_2276dup	XP_016879977.1:p.Leu759PhefsTer30
XM_017024489.1:c.2362_2363dup	XP_016879978.1:p.Leu788PhefsTer28
NM_001193466.2:c.2464_2465dup	NP_001180395.1:p.Leu822PhefsTer31
NM_015443.4:c.2464_2465dup MANE Select	NP_056258.1:p.Leu822PhefsTer31
NM_001193465.2:c.2464_2465dup	NP_001180394.1:p.Leu822PhefsTer30
NM_001379198.1:c.2464_2465dup	NP_001366127.1:p.Leu822PhefsTer31