Canonical Allele Identifier: CA291131247

Gene: KANSL1

Linked Data

• dbSNP Id: rs1043459405
• MyVariant Identifiers: chr17:g.44270292_44270293insGC (hg19) ; chr17:g.46192926_46192927insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46192932_46192933dup , CM000679.2:g.46192932_46192933dup	GRCh38
NC_000017.10:g.44270298_44270299dup , CM000679.1:g.44270298_44270299dup	GRCh37
NC_000017.9:g.41626075_41626076dup	NCBI36
NG_032784.1:g.37447_37448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.-195_-194dup MANE Select	ENSP00000387393.3:n.-195_-194dup
ENST00000571698.2:c.-90+822_-90+823dup	ENSP00000459330.2:n.-90+822_-90+823dup
ENST00000572904.6:c.-89-20696_-89-20695dup	ENSP00000461484.1:n.-89-20696_-89-20695dup
ENST00000574590.6:c.-89-20696_-89-20695dup	ENSP00000461812.2:n.-89-20696_-89-20695dup
ENST00000574655.6:n.166-20696_166-20695dup
ENST00000575318.6:c.-89-20696_-89-20695dup	ENSP00000461299.1:n.-89-20696_-89-20695dup
ENST00000576739.2:c.-89-20696_-89-20695dup	ENSP00000459627.1:n.-89-20696_-89-20695dup
ENST00000638269.1:n.156-20696_156-20695dup
ENST00000638275.1:c.-195_-194dup	ENSP00000492576.1:n.-195_-194dup
ENST00000638902.1:n.16-20696_16-20695dup
ENST00000639099.1:n.162-20696_162-20695dup
ENST00000639150.1:c.23+30743_23+30744dup	ENSP00000491906.1:n.23+30743_23+30744dup
ENST00000639356.1:n.162-20696_162-20695dup
ENST00000639375.1:n.150-20696_150-20695dup
ENST00000648792.1:c.-89-20696_-89-20695dup	ENSP00000497628.1:n.-89-20696_-89-20695dup
ENST00000432791.5:c.-89-20696_-89-20695dup	ENSP00000387393.2:n.-89-20696_-89-20695dup
ENST00000571698.1:c.-90+822_-90+823dup	ENSP00000459330.1:n.-90+822_-90+823dup
ENST00000574590.5:c.-89-20696_-89-20695dup	ENSP00000461812.1:n.-89-20696_-89-20695dup
ENST00000574655.5:c.-89-20696_-89-20695dup	ENSP00000459359.1:n.-89-20696_-89-20695dup
ENST00000576739.1:c.-89-20696_-89-20695dup	ENSP00000459627.1:n.-89-20696_-89-20695dup
NM_001193465.1:c.-89-20696_-89-20695dup	NP_001180394.1:n.-89-20696_-89-20695dup
XM_006721823.1:c.-89-20696_-89-20695dup	XP_006721886.1:n.-89-20696_-89-20695dup
XM_006721824.2:c.-89-20696_-89-20695dup	XP_006721887.1:n.-89-20696_-89-20695dup
XM_011524628.1:c.-89-20696_-89-20695dup	XP_011522930.1:n.-89-20696_-89-20695dup
XM_011524629.1:c.-89-20696_-89-20695dup	XP_011522931.1:n.-89-20696_-89-20695dup
XM_011524630.1:c.-89-20696_-89-20695dup	XP_011522932.1:n.-89-20696_-89-20695dup
XM_011524631.1:c.-89-20696_-89-20695dup	XP_011522933.1:n.-89-20696_-89-20695dup
XM_006721823.2:c.-89-20696_-89-20695dup	XP_006721886.1:n.-89-20696_-89-20695dup
XM_006721824.4:c.-89-20696_-89-20695dup	XP_006721887.1:n.-89-20696_-89-20695dup
XM_011524628.3:c.-89-20696_-89-20695dup	XP_011522930.1:n.-89-20696_-89-20695dup
XM_011524629.3:c.-89-20696_-89-20695dup	XP_011522931.1:n.-89-20696_-89-20695dup
XM_011524630.3:c.-89-20696_-89-20695dup	XP_011522932.1:n.-89-20696_-89-20695dup
XM_011524631.3:c.-89-20696_-89-20695dup	XP_011522933.1:n.-89-20696_-89-20695dup
XM_017024488.2:c.-89-20696_-89-20695dup	XP_016879977.1:n.-89-20696_-89-20695dup
XM_017024489.1:c.-195_-194dup	XP_016879978.1:n.-195_-194dup
NM_015443.4:c.-195_-194dup MANE Select	NP_056258.1:n.-195_-194dup
NM_001193465.2:c.-89-20696_-89-20695dup	NP_001180394.1:n.-89-20696_-89-20695dup
NM_001379198.1:c.-89-20696_-89-20695dup	NP_001366127.1:n.-89-20696_-89-20695dup