Canonical Allele Identifier: CA984134305

Gene: KANSL1

Linked Data

• dbSNP Id: rs1192286509
• gnomAD v3: 17-46192804-GAGC-G
• gnomAD v4: 17-46192804-GAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46192815_46192817del , CM000679.2:g.46192815_46192817del	GRCh38
NC_000017.10:g.44270181_44270183del , CM000679.1:g.44270181_44270183del	GRCh37
NC_000017.9:g.41625958_41625960del	NCBI36
NG_032784.1:g.37568_37570del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.-90+16_-90+18del MANE Select	ENSP00000387393.3:n.-90+16_-90+18del
ENST00000571698.2:c.-90+943_-90+945del	ENSP00000459330.2:n.-90+943_-90+945del
ENST00000572904.6:c.-89-20575_-89-20573del	ENSP00000461484.1:n.-89-20575_-89-20573de...
ENST00000574590.6:c.-89-20575_-89-20573del	ENSP00000461812.2:n.-89-20575_-89-20573de...
ENST00000574655.6:n.166-20575_166-20573del
ENST00000575318.6:c.-89-20575_-89-20573del	ENSP00000461299.1:n.-89-20575_-89-20573de...
ENST00000576739.2:c.-89-20575_-89-20573del	ENSP00000459627.1:n.-89-20575_-89-20573de...
ENST00000638269.1:n.156-20575_156-20573del
ENST00000638275.1:c.-90+16_-90+18del	ENSP00000492576.1:n.-90+16_-90+18del
ENST00000638902.1:n.16-20575_16-20573del
ENST00000639099.1:n.162-20575_162-20573del
ENST00000639150.1:c.23+30864_23+30866del	ENSP00000491906.1:n.23+30864_23+30866del
ENST00000639356.1:n.162-20575_162-20573del
ENST00000639375.1:n.150-20575_150-20573del
ENST00000648792.1:c.-89-20575_-89-20573del	ENSP00000497628.1:n.-89-20575_-89-20573de...
ENST00000432791.5:c.-89-20575_-89-20573del	ENSP00000387393.2:n.-89-20575_-89-20573de...
ENST00000571698.1:c.-90+943_-90+945del	ENSP00000459330.1:n.-90+943_-90+945del
ENST00000572904.5:c.-90+16_-90+18del	ENSP00000461484.1:n.-90+16_-90+18del
ENST00000574590.5:c.-89-20575_-89-20573del	ENSP00000461812.1:n.-89-20575_-89-20573de...
ENST00000574655.5:c.-89-20575_-89-20573del	ENSP00000459359.1:n.-89-20575_-89-20573de...
ENST00000576739.1:c.-89-20575_-89-20573del	ENSP00000459627.1:n.-89-20575_-89-20573de...
NM_001193465.1:c.-89-20575_-89-20573del	NP_001180394.1:n.-89-20575_-89-20573del
NM_015443.3:c.-90+16_-90+18del	NP_056258.1:n.-90+16_-90+18del
XM_006721823.1:c.-89-20575_-89-20573del	XP_006721886.1:n.-89-20575_-89-20573del
XM_006721824.2:c.-89-20575_-89-20573del	XP_006721887.1:n.-89-20575_-89-20573del
XM_011524628.1:c.-89-20575_-89-20573del	XP_011522930.1:n.-89-20575_-89-20573del
XM_011524629.1:c.-89-20575_-89-20573del	XP_011522931.1:n.-89-20575_-89-20573del
XM_011524630.1:c.-89-20575_-89-20573del	XP_011522932.1:n.-89-20575_-89-20573del
XM_011524631.1:c.-89-20575_-89-20573del	XP_011522933.1:n.-89-20575_-89-20573del
XM_006721823.2:c.-89-20575_-89-20573del	XP_006721886.1:n.-89-20575_-89-20573del
XM_006721824.4:c.-89-20575_-89-20573del	XP_006721887.1:n.-89-20575_-89-20573del
XM_011524628.3:c.-89-20575_-89-20573del	XP_011522930.1:n.-89-20575_-89-20573del
XM_011524629.3:c.-89-20575_-89-20573del	XP_011522931.1:n.-89-20575_-89-20573del
XM_011524630.3:c.-89-20575_-89-20573del	XP_011522932.1:n.-89-20575_-89-20573del
XM_011524631.3:c.-89-20575_-89-20573del	XP_011522933.1:n.-89-20575_-89-20573del
XM_017024488.2:c.-89-20575_-89-20573del	XP_016879977.1:n.-89-20575_-89-20573del
XM_017024489.1:c.-90+16_-90+18del	XP_016879978.1:n.-90+16_-90+18del
NM_015443.4:c.-90+16_-90+18del MANE Select	NP_056258.1:n.-90+16_-90+18del
NM_001193465.2:c.-89-20575_-89-20573del	NP_001180394.1:n.-89-20575_-89-20573del
NM_001379198.1:c.-89-20575_-89-20573del	NP_001366127.1:n.-89-20575_-89-20573del