Canonical Allele Identifier: CA8618601

Gene: KANSL1

Linked Data

• dbSNP Id: rs747784599
• ExAC: 17:44116463 TGGGTTG / T
• gnomAD v2: 17-44116463-TGGGTTG-T
• gnomAD v4: 17-46039097-TGGGTTG-T
• MyVariant Identifiers: chr17:g.44116464_44116469del (hg19) ; chr17:g.46039098_46039103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46039098_46039103del , CM000679.2:g.46039098_46039103del	GRCh38
NC_000017.10:g.44116464_44116469del , CM000679.1:g.44116464_44116469del	GRCh37
NC_000017.9:g.41472311_41472316del	NCBI36
NG_032784.1:g.191272_191277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2316_2321del MANE Select	ENSP00000387393.3:p.Asn773_Pro774del
ENST00000572904.6:c.2316_2321del	ENSP00000461484.1:p.Asn773_Pro774del
ENST00000573286.2:n.3999_4004del
ENST00000574590.6:c.2316_2321del	ENSP00000461812.2:p.Asn773_Pro774del
ENST00000575318.6:c.2204-417_2204-412del	ENSP00000461299.1:n.2204-417_2204-412del
ENST00000638275.1:c.2204-417_2204-412del	ENSP00000492576.1:n.2204-417_2204-412del
ENST00000639150.1:c.1050_1055del	ENSP00000491906.1:p.Asn351_Pro352del
ENST00000639531.1:c.2204-417_2204-412del	ENSP00000491765.1:n.2204-417_2204-412del
ENST00000639853.1:c.1375-417_1375-412del
ENST00000640636.1:c.346-417_346-412del
ENST00000648792.1:c.2316_2321del	ENSP00000497628.1:p.Asn773_Pro774del
ENST00000262419.10:c.2316_2321del	ENSP00000262419.6:p.Asn773_Pro774del
ENST00000432791.5:c.2316_2321del	ENSP00000387393.2:p.Asn773_Pro774del
ENST00000572218.5:n.6533_6538del
ENST00000572679.1:n.448_453del
ENST00000572904.5:c.2316_2321del	ENSP00000461484.1:p.Asn773_Pro774del
ENST00000573286.1:n.172_177del
ENST00000574590.5:c.2316_2321del	ENSP00000461812.1:p.Asn773_Pro774del
ENST00000575318.5:c.2204-417_2204-412del	ENSP00000461299.1:n.2204-417_2204-412del
ENST00000576870.5:n.365-417_365-412del
NM_001193465.1:c.2316_2321del	NP_001180394.1:p.Asn773_Pro774del
NM_001193466.1:c.2316_2321del	NP_001180395.1:p.Asn773_Pro774del
NM_015443.3:c.2316_2321del	NP_056258.1:p.Asn773_Pro774del
XM_006721823.1:c.2316_2321del	XP_006721886.1:p.Asn773_Pro774del
XM_006721824.2:c.2316_2321del	XP_006721887.1:p.Asn773_Pro774del
XM_011524628.1:c.2316_2321del	XP_011522930.1:p.Asn773_Pro774del
XM_011524629.1:c.2214_2219del	XP_011522931.1:p.Asn739_Pro740del
XM_011524630.1:c.2204-417_2204-412del	XP_011522932.1:n.2204-417_2204-412del
XM_011524631.1:c.2204-417_2204-412del	XP_011522933.1:n.2204-417_2204-412del
XM_011524632.1:c.1086_1091del	XP_011522934.1:p.Asn363_Pro364del
XM_006721823.2:c.2316_2321del	XP_006721886.1:p.Asn773_Pro774del
XM_006721824.4:c.2316_2321del	XP_006721887.1:p.Asn773_Pro774del
XM_011524628.3:c.2316_2321del	XP_011522930.1:p.Asn773_Pro774del
XM_011524629.3:c.2214_2219del	XP_011522931.1:p.Asn739_Pro740del
XM_011524630.3:c.2204-417_2204-412del	XP_011522932.1:n.2204-417_2204-412del
XM_011524631.3:c.2204-417_2204-412del	XP_011522933.1:n.2204-417_2204-412del
XM_011524632.3:c.1086_1091del	XP_011522934.1:p.Asn363_Pro364del
XM_017024488.2:c.2204-417_2204-412del	XP_016879977.1:n.2204-417_2204-412del
XM_017024489.1:c.2214_2219del	XP_016879978.1:p.Asn739_Pro740del
NM_001193466.2:c.2316_2321del	NP_001180395.1:p.Asn773_Pro774del
NM_015443.4:c.2316_2321del MANE Select	NP_056258.1:p.Asn773_Pro774del
NM_001193465.2:c.2316_2321del	NP_001180394.1:p.Asn773_Pro774del
NM_001379198.1:c.2316_2321del	NP_001366127.1:p.Asn773_Pro774del