Canonical Allele Identifier: CA772454164

Gene: KANSL1

Linked Data

• dbSNP Id: rs1465349144
• gnomAD v4: 17-46038456-C-CCCT
• MyVariant Identifiers: chr17:g.44115822_44115823insCCT (hg19) ; chr17:g.46038456_46038457insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038458_46038460dup , CM000679.2:g.46038458_46038460dup	GRCh38
NC_000017.10:g.44115824_44115826dup , CM000679.1:g.44115824_44115826dup	GRCh37
NC_000017.9:g.41471671_41471673dup	NCBI36
NG_032784.1:g.191916_191918dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2541+79_2541+81dup MANE Select	ENSP00000387393.3:n.2541+79_2541+81dup
ENST00000572904.6:c.2541+79_2541+81dup	ENSP00000461484.1:n.2541+79_2541+81dup
ENST00000573286.2:n.4303_4305dup
ENST00000574590.6:c.2541+79_2541+81dup	ENSP00000461812.2:n.2541+79_2541+81dup
ENST00000575318.6:c.2352+79_2352+81dup	ENSP00000461299.1:n.2352+79_2352+81dup
ENST00000576137.2:n.538+79_538+81dup
ENST00000638275.1:c.2352+79_2352+81dup	ENSP00000492576.1:n.2352+79_2352+81dup
ENST00000639150.1:c.1275+79_1275+81dup	ENSP00000491906.1:n.1275+79_1275+81dup
ENST00000639467.1:c.204+79_204+81dup	ENSP00000492741.1:n.204+79_204+81dup
ENST00000639531.1:c.2352+79_2352+81dup	ENSP00000491765.1:n.2352+79_2352+81dup
ENST00000640636.1:c.494+79_494+81dup
ENST00000648792.1:c.2541+79_2541+81dup	ENSP00000497628.1:n.2541+79_2541+81dup
ENST00000262419.10:c.2541+79_2541+81dup	ENSP00000262419.6:n.2541+79_2541+81dup
ENST00000432791.5:c.2541+79_2541+81dup	ENSP00000387393.2:n.2541+79_2541+81dup
ENST00000572218.5:n.6758+79_6758+81dup
ENST00000572904.5:c.2541+79_2541+81dup	ENSP00000461484.1:n.2541+79_2541+81dup
ENST00000573286.1:n.476_478dup
ENST00000574590.5:c.2541+79_2541+81dup	ENSP00000461812.1:n.2541+79_2541+81dup
ENST00000575318.5:c.2352+79_2352+81dup	ENSP00000461299.1:n.2352+79_2352+81dup
ENST00000576137.1:n.180+79_180+81dup
ENST00000576870.5:n.513+79_513+81dup
NM_001193465.1:c.2541+79_2541+81dup	NP_001180394.1:n.2541+79_2541+81dup
NM_001193466.1:c.2541+79_2541+81dup	NP_001180395.1:n.2541+79_2541+81dup
NM_015443.3:c.2541+79_2541+81dup	NP_056258.1:n.2541+79_2541+81dup
XM_006721823.1:c.2541+79_2541+81dup	XP_006721886.1:n.2541+79_2541+81dup
XM_006721824.2:c.2541+79_2541+81dup	XP_006721887.1:n.2541+79_2541+81dup
XM_011524628.1:c.2541+79_2541+81dup	XP_011522930.1:n.2541+79_2541+81dup
XM_011524629.1:c.2439+79_2439+81dup	XP_011522931.1:n.2439+79_2439+81dup
XM_011524630.1:c.2352+79_2352+81dup	XP_011522932.1:n.2352+79_2352+81dup
XM_011524631.1:c.2352+79_2352+81dup	XP_011522933.1:n.2352+79_2352+81dup
XM_011524632.1:c.1311+79_1311+81dup	XP_011522934.1:n.1311+79_1311+81dup
XM_006721823.2:c.2541+79_2541+81dup	XP_006721886.1:n.2541+79_2541+81dup
XM_006721824.4:c.2541+79_2541+81dup	XP_006721887.1:n.2541+79_2541+81dup
XM_011524628.3:c.2541+79_2541+81dup	XP_011522930.1:n.2541+79_2541+81dup
XM_011524629.3:c.2439+79_2439+81dup	XP_011522931.1:n.2439+79_2439+81dup
XM_011524630.3:c.2352+79_2352+81dup	XP_011522932.1:n.2352+79_2352+81dup
XM_011524631.3:c.2352+79_2352+81dup	XP_011522933.1:n.2352+79_2352+81dup
XM_011524632.3:c.1311+79_1311+81dup	XP_011522934.1:n.1311+79_1311+81dup
XM_017024488.2:c.2352+79_2352+81dup	XP_016879977.1:n.2352+79_2352+81dup
XM_017024489.1:c.2518_2520dup	XP_016879978.1:p.Arg840_Val841insArg
NM_001193466.2:c.2541+79_2541+81dup	NP_001180395.1:n.2541+79_2541+81dup
NM_015443.4:c.2541+79_2541+81dup MANE Select	NP_056258.1:n.2541+79_2541+81dup
NM_001193465.2:c.2541+79_2541+81dup	NP_001180394.1:n.2541+79_2541+81dup
NM_001379198.1:c.2541+79_2541+81dup	NP_001366127.1:n.2541+79_2541+81dup