Canonical Allele Identifier: CA291131078

Gene: KANSL1

Linked Data

• dbSNP Id: rs1030140043
• gnomAD v3: 17-46192733-A-AAG
• gnomAD v4: 17-46192733-A-AAG
• MyVariant Identifiers: chr17:g.44270099_44270100insAG (hg19) ; chr17:g.46192733_46192734insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46192743_46192744dup , CM000679.2:g.46192743_46192744dup	GRCh38
NC_000017.10:g.44270109_44270110dup , CM000679.1:g.44270109_44270110dup	GRCh37
NC_000017.9:g.41625886_41625887dup	NCBI36
NG_032784.1:g.37640_37641dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.-90+88_-90+89dup MANE Select	ENSP00000387393.3:n.-90+88_-90+89dup
ENST00000571698.2:c.-90+1015_-90+1016dup	ENSP00000459330.2:n.-90+1015_-90+1016dup
ENST00000572904.6:c.-89-20503_-89-20502dup	ENSP00000461484.1:n.-89-20503_-89-20502dup
ENST00000574590.6:c.-89-20503_-89-20502dup	ENSP00000461812.2:n.-89-20503_-89-20502dup
ENST00000574655.6:n.166-20503_166-20502dup
ENST00000575318.6:c.-89-20503_-89-20502dup	ENSP00000461299.1:n.-89-20503_-89-20502dup
ENST00000576739.2:c.-89-20503_-89-20502dup	ENSP00000459627.1:n.-89-20503_-89-20502dup
ENST00000638269.1:n.156-20503_156-20502dup
ENST00000638275.1:c.-90+88_-90+89dup	ENSP00000492576.1:n.-90+88_-90+89dup
ENST00000638902.1:n.16-20503_16-20502dup
ENST00000639099.1:n.162-20503_162-20502dup
ENST00000639150.1:c.23+30936_23+30937dup	ENSP00000491906.1:n.23+30936_23+30937dup
ENST00000639356.1:n.162-20503_162-20502dup
ENST00000639375.1:n.150-20503_150-20502dup
ENST00000648792.1:c.-89-20503_-89-20502dup	ENSP00000497628.1:n.-89-20503_-89-20502dup
ENST00000262419.10:c.-406_-405dup	ENSP00000262419.6:n.-406_-405dup
ENST00000432791.5:c.-89-20503_-89-20502dup	ENSP00000387393.2:n.-89-20503_-89-20502dup
ENST00000571698.1:c.-90+1015_-90+1016dup	ENSP00000459330.1:n.-90+1015_-90+1016dup
ENST00000572904.5:c.-90+88_-90+89dup	ENSP00000461484.1:n.-90+88_-90+89dup
ENST00000574590.5:c.-89-20503_-89-20502dup	ENSP00000461812.1:n.-89-20503_-89-20502dup
ENST00000574655.5:c.-89-20503_-89-20502dup	ENSP00000459359.1:n.-89-20503_-89-20502dup
ENST00000576739.1:c.-89-20503_-89-20502dup	ENSP00000459627.1:n.-89-20503_-89-20502dup
NM_001193465.1:c.-89-20503_-89-20502dup	NP_001180394.1:n.-89-20503_-89-20502dup
NM_001193466.1:c.-406_-405dup	NP_001180395.1:n.-406_-405dup
NM_015443.3:c.-90+88_-90+89dup	NP_056258.1:n.-90+88_-90+89dup
XM_006721823.1:c.-89-20503_-89-20502dup	XP_006721886.1:n.-89-20503_-89-20502dup
XM_006721824.2:c.-89-20503_-89-20502dup	XP_006721887.1:n.-89-20503_-89-20502dup
XM_011524628.1:c.-89-20503_-89-20502dup	XP_011522930.1:n.-89-20503_-89-20502dup
XM_011524629.1:c.-89-20503_-89-20502dup	XP_011522931.1:n.-89-20503_-89-20502dup
XM_011524630.1:c.-89-20503_-89-20502dup	XP_011522932.1:n.-89-20503_-89-20502dup
XM_011524631.1:c.-89-20503_-89-20502dup	XP_011522933.1:n.-89-20503_-89-20502dup
XM_006721823.2:c.-89-20503_-89-20502dup	XP_006721886.1:n.-89-20503_-89-20502dup
XM_006721824.4:c.-89-20503_-89-20502dup	XP_006721887.1:n.-89-20503_-89-20502dup
XM_011524628.3:c.-89-20503_-89-20502dup	XP_011522930.1:n.-89-20503_-89-20502dup
XM_011524629.3:c.-89-20503_-89-20502dup	XP_011522931.1:n.-89-20503_-89-20502dup
XM_011524630.3:c.-89-20503_-89-20502dup	XP_011522932.1:n.-89-20503_-89-20502dup
XM_011524631.3:c.-89-20503_-89-20502dup	XP_011522933.1:n.-89-20503_-89-20502dup
XM_017024488.2:c.-89-20503_-89-20502dup	XP_016879977.1:n.-89-20503_-89-20502dup
XM_017024489.1:c.-90+88_-90+89dup	XP_016879978.1:n.-90+88_-90+89dup
NM_001193466.2:c.-406_-405dup	NP_001180395.1:n.-406_-405dup
NM_015443.4:c.-90+88_-90+89dup MANE Select	NP_056258.1:n.-90+88_-90+89dup
NM_001193465.2:c.-89-20503_-89-20502dup	NP_001180394.1:n.-89-20503_-89-20502dup
NM_001379198.1:c.-89-20503_-89-20502dup	NP_001366127.1:n.-89-20503_-89-20502dup