Canonical Allele Identifier: CA8618357

Gene: KANSL1

Linked Data

• dbSNP Id: rs772894204
• ExAC: 17:44109016 C / CGGT
• gnomAD v2: 17-44109016-C-CGGT
• gnomAD v4: 17-46031650-C-CGGT
• MyVariant Identifiers: chr17:g.44109016_44109017insGGT (hg19) ; chr17:g.46031650_46031651insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031651_46031652insGTG , CM000679.2:g.46031651_46031652insGTG	GRCh38
NC_000017.10:g.44109017_44109018insGTG , CM000679.1:g.44109017_44109018insGTG	GRCh37
NC_000017.9:g.41464864_41464865insGTG	NCBI36
NG_032784.1:g.198724_198725insACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3143_3144insACC MANE Select	ENSP00000387393.3:p.Ala1048_Glu1049insPro
ENST00000572904.6:c.3143_3144insACC	ENSP00000461484.1:p.Ala1048_Glu1049insPro
ENST00000574590.6:c.3140_3141insACC	ENSP00000461812.2:p.Ala1047_Glu1048insPro
ENST00000575318.6:c.2951_2952insACC	ENSP00000461299.1:p.Ala984_Glu985insPro
ENST00000638275.1:c.2951_2952insACC	ENSP00000492576.1:p.Ala984_Glu985insPro
ENST00000648792.1:c.3011_3012insACC	ENSP00000497628.1:p.Ala1004_Glu1005insPro
ENST00000262419.10:c.3143_3144insACC	ENSP00000262419.6:p.Ala1048_Glu1049insPro
ENST00000432791.5:c.3140_3141insACC	ENSP00000387393.2:p.Ala1047_Glu1048insPro
ENST00000572218.5:n.7360_7361insACC
ENST00000572904.5:c.3143_3144insACC	ENSP00000461484.1:p.Ala1048_Glu1049insPro
ENST00000574590.5:c.3143_3144insACC	ENSP00000461812.1:p.Ala1048_Glu1049insPro
ENST00000574963.1:n.916_917insACC
ENST00000575318.5:c.2951_2952insACC	ENSP00000461299.1:p.Ala984_Glu985insPro
ENST00000576870.5:n.1115_1116insACC
NM_001193465.1:c.3140_3141insACC	NP_001180394.1:p.Ala1047_Glu1048insPro
NM_001193466.1:c.3143_3144insACC	NP_001180395.1:p.Ala1048_Glu1049insPro
NM_015443.3:c.3143_3144insACC	NP_056258.1:p.Ala1048_Glu1049insPro
XM_006721823.1:c.3143_3144insACC	XP_006721886.1:p.Ala1048_Glu1049insPro
XM_006721824.2:c.3143_3144insACC	XP_006721887.1:p.Ala1048_Glu1049insPro
XM_011524628.1:c.3140_3141insACC	XP_011522930.1:p.Ala1047_Glu1048insPro
XM_011524629.1:c.3041_3042insACC	XP_011522931.1:p.Ala1014_Glu1015insPro
XM_011524630.1:c.2954_2955insACC	XP_011522932.1:p.Ala985_Glu986insPro
XM_011524631.1:c.2951_2952insACC	XP_011522933.1:p.Ala984_Glu985insPro
XM_011524632.1:c.1913_1914insACC	XP_011522934.1:p.Ala638_Glu639insPro
XM_006721823.2:c.3143_3144insACC	XP_006721886.1:p.Ala1048_Glu1049insPro
XM_006721824.4:c.3143_3144insACC	XP_006721887.1:p.Ala1048_Glu1049insPro
XM_011524628.3:c.3140_3141insACC	XP_011522930.1:p.Ala1047_Glu1048insPro
XM_011524629.3:c.3041_3042insACC	XP_011522931.1:p.Ala1014_Glu1015insPro
XM_011524630.3:c.2954_2955insACC	XP_011522932.1:p.Ala985_Glu986insPro
XM_011524631.3:c.2951_2952insACC	XP_011522933.1:p.Ala984_Glu985insPro
XM_011524632.3:c.1913_1914insACC	XP_011522934.1:p.Ala638_Glu639insPro
XM_017024488.2:c.2951_2952insACC	XP_016879977.1:p.Ala984_Glu985insPro
NM_001193466.2:c.3143_3144insACC	NP_001180395.1:p.Ala1048_Glu1049insPro
NM_015443.4:c.3143_3144insACC MANE Select	NP_056258.1:p.Ala1048_Glu1049insPro
NM_001193465.2:c.3140_3141insACC	NP_001180394.1:p.Ala1047_Glu1048insPro
NM_001379198.1:c.3143_3144insACC	NP_001366127.1:p.Ala1048_Glu1049insPro