Canonical Allele Identifier: CA343197

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 38930
• ClinVar RCV Id: RCV000032181
• dbSNP Id: rs281865473
• ExAC: 17:44248523 CAA / C
• gnomAD v2: 17-44248523-CAA-C
• gnomAD v4: 17-46171157-CAA-C
• MyVariant Identifiers: chr17:g.44248524_44248525del (hg19) ; chr17:g.46171159_46171160del (hg38) ; chr17:g.46171158_46171159del (hg38)
• PubMed: PMID:20301783 ; PMID:26306646

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46171159_46171160del , CM000679.2:g.46171159_46171160del	GRCh38
NC_000017.10:g.44248525_44248526del , CM000679.1:g.44248525_44248526del	GRCh37
NC_000017.9:g.41604302_41604303del	NCBI36
NG_032784.1:g.59216_59217del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.985_986del MANE Select	ENSP00000387393.3:p.Leu329GlufsTer22
ENST00000571698.2:c.985_986del	ENSP00000459330.2:p.Leu329GlufsTer22
ENST00000572904.6:c.985_986del	ENSP00000461484.1:p.Leu329GlufsTer22
ENST00000574590.6:c.985_986del	ENSP00000461812.2:p.Leu329GlufsTer22
ENST00000574655.6:n.1239_1240del
ENST00000575318.6:c.985_986del	ENSP00000461299.1:p.Leu329GlufsTer22
ENST00000576248.2:n.65_66del
ENST00000638269.1:n.1229_1230del
ENST00000638275.1:c.985_986del	ENSP00000492576.1:p.Leu329GlufsTer22
ENST00000638902.1:n.1089_1090del
ENST00000639099.1:n.1235_1236del
ENST00000639150.1:c.23+52512_23+52513del	ENSP00000491906.1:n.23+52512_23+52513del
ENST00000639356.1:n.1235_1236del
ENST00000639375.1:n.1223_1224del
ENST00000639531.1:c.985_986del	ENSP00000491765.1:p.Leu329GlufsTer22
ENST00000639853.1:c.258_259del
ENST00000648792.1:c.985_986del	ENSP00000497628.1:p.Leu329GlufsTer22
ENST00000262419.10:c.985_986del	ENSP00000262419.6:p.Leu329GlufsTer22
ENST00000432791.5:c.985_986del	ENSP00000387393.2:p.Leu329GlufsTer22
ENST00000572904.5:c.985_986del	ENSP00000461484.1:p.Leu329GlufsTer22
ENST00000574590.5:c.985_986del	ENSP00000461812.1:p.Leu329GlufsTer22
ENST00000575318.5:c.985_986del	ENSP00000461299.1:p.Leu329GlufsTer22
NM_001193465.1:c.985_986del	NP_001180394.1:p.Leu329GlufsTer22
NM_001193466.1:c.985_986del	NP_001180395.1:p.Leu329GlufsTer22
NM_015443.3:c.985_986del	NP_056258.1:p.Leu329GlufsTer22
XM_006721823.1:c.985_986del	XP_006721886.1:p.Leu329GlufsTer22
XM_006721824.2:c.985_986del	XP_006721887.1:p.Leu329GlufsTer22
XM_011524628.1:c.985_986del	XP_011522930.1:p.Leu329GlufsTer22
XM_011524629.1:c.985_986del	XP_011522931.1:p.Leu329GlufsTer22
XM_011524630.1:c.985_986del	XP_011522932.1:p.Leu329GlufsTer22
XM_011524631.1:c.985_986del	XP_011522933.1:p.Leu329GlufsTer22
XM_006721823.2:c.985_986del	XP_006721886.1:p.Leu329GlufsTer22
XM_006721824.4:c.985_986del	XP_006721887.1:p.Leu329GlufsTer22
XM_011524628.3:c.985_986del	XP_011522930.1:p.Leu329GlufsTer22
XM_011524629.3:c.985_986del	XP_011522931.1:p.Leu329GlufsTer22
XM_011524630.3:c.985_986del	XP_011522932.1:p.Leu329GlufsTer22
XM_011524631.3:c.985_986del	XP_011522933.1:p.Leu329GlufsTer22
XM_017024488.2:c.985_986del	XP_016879977.1:p.Leu329GlufsTer22
XM_017024489.1:c.985_986del	XP_016879978.1:p.Leu329GlufsTer22
NM_001193466.2:c.985_986del	NP_001180395.1:p.Leu329GlufsTer22
NM_015443.4:c.985_986del MANE Select	NP_056258.1:p.Leu329GlufsTer22
NM_001193465.2:c.985_986del	NP_001180394.1:p.Leu329GlufsTer22
NM_001379198.1:c.985_986del	NP_001366127.1:p.Leu329GlufsTer22