Canonical Allele Identifier: CA10639923

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 323758
• ClinVar RCV Id: RCV000328828 ; RCV000352928
• dbSNP Id: rs113448888
• gnomAD v2: 17-44108482-A-AGCCCTCT
• gnomAD v3: 17-46031116-A-AGCCCTCT
• gnomAD v4: 17-46031116-A-AGCCCTCT
• COSMIC: COSN20114044
• MyVariant Identifiers: chr17:g.44108482_44108483insGCCCTCT (hg19) ; chr17:g.46031116_46031117insGCCCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031120_46031121insTCTGCCC , CM000679.2:g.46031120_46031121insTCTGCCC	GRCh38
NC_000017.10:g.44108486_44108487insTCTGCCC , CM000679.1:g.44108486_44108487insTCTGCCC	GRCh37
NC_000017.9:g.41464333_41464334insTCTGCCC	NCBI36
NG_032784.1:g.199258_199259insAGAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.*359_*360insAGAGGGC MANE Select	ENSP00000387393.3:n.*359_*360insAGAGGGC
ENST00000572904.6:c.*359_*360insAGAGGGC	ENSP00000461484.1:n.*359_*360insAGAGGGC
ENST00000574590.6:c.*359_*360insAGAGGGC	ENSP00000461812.2:n.*359_*360insAGAGGGC
ENST00000575318.6:c.*359_*360insAGAGGGC	ENSP00000461299.1:n.*359_*360insAGAGGGC
ENST00000638275.1:c.*359_*360insAGAGGGC	ENSP00000492576.1:n.*359_*360insAGAGGGC
ENST00000648792.1:c.*359_*360insAGAGGGC	ENSP00000497628.1:n.*359_*360insAGAGGGC
ENST00000262419.10:c.*359_*360insAGAGGGC	ENSP00000262419.6:n.*359_*360insAGAGGGC
ENST00000432791.5:c.*359_*360insAGAGGGC	ENSP00000387393.2:n.*359_*360insAGAGGGC
ENST00000572218.5:n.7894_7895insAGAGGGC
ENST00000572904.5:c.*359_*360insAGAGGGC	ENSP00000461484.1:n.*359_*360insAGAGGGC
ENST00000574590.5:c.*359_*360insAGAGGGC	ENSP00000461812.1:n.*359_*360insAGAGGGC
ENST00000574963.1:n.1450_1451insAGAGGGC
ENST00000575318.5:c.*359_*360insAGAGGGC	ENSP00000461299.1:n.*359_*360insAGAGGGC
ENST00000576870.5:n.1649_1650insAGAGGGC
NM_001193465.1:c.*359_*360insAGAGGGC	NP_001180394.1:n.*359_*360insAGAGGGC
NM_001193466.1:c.*359_*360insAGAGGGC	NP_001180395.1:n.*359_*360insAGAGGGC
NM_015443.3:c.*359_*360insAGAGGGC	NP_056258.1:n.*359_*360insAGAGGGC
XM_006721823.1:c.*359_*360insAGAGGGC	XP_006721886.1:n.*359_*360insAGAGGGC
XM_006721824.2:c.*359_*360insAGAGGGC	XP_006721887.1:n.*359_*360insAGAGGGC
XM_011524628.1:c.*359_*360insAGAGGGC	XP_011522930.1:n.*359_*360insAGAGGGC
XM_011524629.1:c.*359_*360insAGAGGGC	XP_011522931.1:n.*359_*360insAGAGGGC
XM_011524630.1:c.*359_*360insAGAGGGC	XP_011522932.1:n.*359_*360insAGAGGGC
XM_011524631.1:c.*359_*360insAGAGGGC	XP_011522933.1:n.*359_*360insAGAGGGC
XM_011524632.1:c.*359_*360insAGAGGGC	XP_011522934.1:n.*359_*360insAGAGGGC
XM_006721823.2:c.*359_*360insAGAGGGC	XP_006721886.1:n.*359_*360insAGAGGGC
XM_006721824.4:c.*359_*360insAGAGGGC	XP_006721887.1:n.*359_*360insAGAGGGC
XM_011524628.3:c.*359_*360insAGAGGGC	XP_011522930.1:n.*359_*360insAGAGGGC
XM_011524629.3:c.*359_*360insAGAGGGC	XP_011522931.1:n.*359_*360insAGAGGGC
XM_011524630.3:c.*359_*360insAGAGGGC	XP_011522932.1:n.*359_*360insAGAGGGC
XM_011524631.3:c.*359_*360insAGAGGGC	XP_011522933.1:n.*359_*360insAGAGGGC
XM_011524632.3:c.*359_*360insAGAGGGC	XP_011522934.1:n.*359_*360insAGAGGGC
XM_017024488.2:c.*359_*360insAGAGGGC	XP_016879977.1:n.*359_*360insAGAGGGC
NM_001193466.2:c.*359_*360insAGAGGGC	NP_001180395.1:n.*359_*360insAGAGGGC
NM_015443.4:c.*359_*360insAGAGGGC MANE Select	NP_056258.1:n.*359_*360insAGAGGGC
NM_001193465.2:c.*359_*360insAGAGGGC	NP_001180394.1:n.*359_*360insAGAGGGC
NM_001379198.1:c.*359_*360insAGAGGGC	NP_001366127.1:n.*359_*360insAGAGGGC