Canonical Allele Identifier: CA2638380534

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46038898-G-GAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038898_46038899insAGGGA , CM000679.2:g.46038898_46038899insAGGGA	GRCh38
NC_000017.10:g.44116264_44116265insAGGGA , CM000679.1:g.44116264_44116265insAGGGA	GRCh37
NC_000017.9:g.41472111_41472112insAGGGA	NCBI36
NG_032784.1:g.191476_191477insTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2392+128_2392+129insTCCCT MANE Select	ENSP00000387393.3:n.2392+128_2392+129insTCCCT
ENST00000572904.6:c.2392+128_2392+129insTCCCT	ENSP00000461484.1:n.2392+128_2392+129insTCCCT
ENST00000573286.2:n.4075+128_4075+129insTCCCT
ENST00000574590.6:c.2392+128_2392+129insTCCCT	ENSP00000461812.2:n.2392+128_2392+129insTCCCT
ENST00000575318.6:c.2204-213_2204-212insTCCCT	ENSP00000461299.1:n.2204-213_2204-212insTCCCT
ENST00000576137.2:n.177_178insTCCCT
ENST00000638275.1:c.2204-213_2204-212insTCCCT	ENSP00000492576.1:n.2204-213_2204-212insTCCCT
ENST00000639150.1:c.1126+128_1126+129insTCCCT	ENSP00000491906.1:n.1126+128_1126+129insTCCCT
ENST00000639467.1:c.55+128_55+129insTCCCT	ENSP00000492741.1:n.55+128_55+129insTCCCT
ENST00000639531.1:c.2204-213_2204-212insTCCCT	ENSP00000491765.1:n.2204-213_2204-212insTCCCT
ENST00000639853.1:c.1375-213_1375-212insTCCCT
ENST00000640636.1:c.346-213_346-212insTCCCT
ENST00000648792.1:c.2392+128_2392+129insTCCCT	ENSP00000497628.1:n.2392+128_2392+129insTCCCT
ENST00000262419.10:c.2392+128_2392+129insTCCCT	ENSP00000262419.6:n.2392+128_2392+129insTCCCT
ENST00000432791.5:c.2392+128_2392+129insTCCCT	ENSP00000387393.2:n.2392+128_2392+129insTCCCT
ENST00000572218.5:n.6609+128_6609+129insTCCCT
ENST00000572679.1:n.524+128_524+129insTCCCT
ENST00000572904.5:c.2392+128_2392+129insTCCCT	ENSP00000461484.1:n.2392+128_2392+129insTCCCT
ENST00000573286.1:n.248+128_248+129insTCCCT
ENST00000574590.5:c.2392+128_2392+129insTCCCT	ENSP00000461812.1:n.2392+128_2392+129insTCCCT
ENST00000575318.5:c.2204-213_2204-212insTCCCT	ENSP00000461299.1:n.2204-213_2204-212insTCCCT
ENST00000576870.5:n.365-213_365-212insTCCCT
NM_001193465.1:c.2392+128_2392+129insTCCCT	NP_001180394.1:n.2392+128_2392+129insTCCCT
NM_001193466.1:c.2392+128_2392+129insTCCCT	NP_001180395.1:n.2392+128_2392+129insTCCCT
NM_015443.3:c.2392+128_2392+129insTCCCT	NP_056258.1:n.2392+128_2392+129insTCCCT
XM_006721823.1:c.2392+128_2392+129insTCCCT	XP_006721886.1:n.2392+128_2392+129insTCCCT
XM_006721824.2:c.2392+128_2392+129insTCCCT	XP_006721887.1:n.2392+128_2392+129insTCCCT
XM_011524628.1:c.2392+128_2392+129insTCCCT	XP_011522930.1:n.2392+128_2392+129insTCCCT
XM_011524629.1:c.2290+128_2290+129insTCCCT	XP_011522931.1:n.2290+128_2290+129insTCCCT
XM_011524630.1:c.2204-213_2204-212insTCCCT	XP_011522932.1:n.2204-213_2204-212insTCCCT
XM_011524631.1:c.2204-213_2204-212insTCCCT	XP_011522933.1:n.2204-213_2204-212insTCCCT
XM_011524632.1:c.1162+128_1162+129insTCCCT	XP_011522934.1:n.1162+128_1162+129insTCCCT
XM_006721823.2:c.2392+128_2392+129insTCCCT	XP_006721886.1:n.2392+128_2392+129insTCCCT
XM_006721824.4:c.2392+128_2392+129insTCCCT	XP_006721887.1:n.2392+128_2392+129insTCCCT
XM_011524628.3:c.2392+128_2392+129insTCCCT	XP_011522930.1:n.2392+128_2392+129insTCCCT
XM_011524629.3:c.2290+128_2290+129insTCCCT	XP_011522931.1:n.2290+128_2290+129insTCCCT
XM_011524630.3:c.2204-213_2204-212insTCCCT	XP_011522932.1:n.2204-213_2204-212insTCCCT
XM_011524631.3:c.2204-213_2204-212insTCCCT	XP_011522933.1:n.2204-213_2204-212insTCCCT
XM_011524632.3:c.1162+128_1162+129insTCCCT	XP_011522934.1:n.1162+128_1162+129insTCCCT
XM_017024488.2:c.2204-213_2204-212insTCCCT	XP_016879977.1:n.2204-213_2204-212insTCCCT
XM_017024489.1:c.2290+128_2290+129insTCCCT	XP_016879978.1:n.2290+128_2290+129insTCCCT
NM_001193466.2:c.2392+128_2392+129insTCCCT	NP_001180395.1:n.2392+128_2392+129insTCCCT
NM_015443.4:c.2392+128_2392+129insTCCCT MANE Select	NP_056258.1:n.2392+128_2392+129insTCCCT
NM_001193465.2:c.2392+128_2392+129insTCCCT	NP_001180394.1:n.2392+128_2392+129insTCCCT
NM_001379198.1:c.2392+128_2392+129insTCCCT	NP_001366127.1:n.2392+128_2392+129insTCCCT