Canonical Allele Identifier: CA626683796

Gene: KANSL1

Linked Data

• dbSNP Id: rs1243494119
• gnomAD v2: 17-44109088-C-CT
• gnomAD v4: 17-46031722-C-CT
• MyVariant Identifiers: chr17:g.44109088_44109089insT (hg19) ; chr17:g.46031722_46031723insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031723dup , CM000679.2:g.46031723dup	GRCh38
NC_000017.10:g.44109089dup , CM000679.1:g.44109089dup	GRCh37
NC_000017.9:g.41464936dup	NCBI36
NG_032784.1:g.198652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3091-20dup MANE Select	ENSP00000387393.3:n.3091-20dup
ENST00000572904.6:c.3091-20dup	ENSP00000461484.1:n.3091-20dup
ENST00000574590.6:c.3088-20dup	ENSP00000461812.2:n.3088-20dup
ENST00000575318.6:c.2899-20dup	ENSP00000461299.1:n.2899-20dup
ENST00000638275.1:c.2899-20dup	ENSP00000492576.1:n.2899-20dup
ENST00000639805.1:n.508-20dup
ENST00000648792.1:c.2959-20dup	ENSP00000497628.1:n.2959-20dup
ENST00000262419.10:c.3091-20dup	ENSP00000262419.6:n.3091-20dup
ENST00000432791.5:c.3088-20dup	ENSP00000387393.2:n.3088-20dup
ENST00000572218.5:n.7308-20dup
ENST00000572904.5:c.3091-20dup	ENSP00000461484.1:n.3091-20dup
ENST00000574590.5:c.3091-20dup	ENSP00000461812.1:n.3091-20dup
ENST00000574963.1:n.844dup
ENST00000575318.5:c.2899-20dup	ENSP00000461299.1:n.2899-20dup
ENST00000576870.5:n.1063-20dup
NM_001193465.1:c.3088-20dup	NP_001180394.1:n.3088-20dup
NM_001193466.1:c.3091-20dup	NP_001180395.1:n.3091-20dup
NM_015443.3:c.3091-20dup	NP_056258.1:n.3091-20dup
XM_006721823.1:c.3091-20dup	XP_006721886.1:n.3091-20dup
XM_006721824.2:c.3091-20dup	XP_006721887.1:n.3091-20dup
XM_011524628.1:c.3088-20dup	XP_011522930.1:n.3088-20dup
XM_011524629.1:c.2989-20dup	XP_011522931.1:n.2989-20dup
XM_011524630.1:c.2902-20dup	XP_011522932.1:n.2902-20dup
XM_011524631.1:c.2899-20dup	XP_011522933.1:n.2899-20dup
XM_011524632.1:c.1861-20dup	XP_011522934.1:n.1861-20dup
XM_006721823.2:c.3091-20dup	XP_006721886.1:n.3091-20dup
XM_006721824.4:c.3091-20dup	XP_006721887.1:n.3091-20dup
XM_011524628.3:c.3088-20dup	XP_011522930.1:n.3088-20dup
XM_011524629.3:c.2989-20dup	XP_011522931.1:n.2989-20dup
XM_011524630.3:c.2902-20dup	XP_011522932.1:n.2902-20dup
XM_011524631.3:c.2899-20dup	XP_011522933.1:n.2899-20dup
XM_011524632.3:c.1861-20dup	XP_011522934.1:n.1861-20dup
XM_017024488.2:c.2899-20dup	XP_016879977.1:n.2899-20dup
NM_001193466.2:c.3091-20dup	NP_001180395.1:n.3091-20dup
NM_015443.4:c.3091-20dup MANE Select	NP_056258.1:n.3091-20dup
NM_001193465.2:c.3088-20dup	NP_001180394.1:n.3088-20dup
NM_001379198.1:c.3091-20dup	NP_001366127.1:n.3091-20dup