Canonical Allele Identifier: CA16620458
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423448
ClinVar RCV Id: RCV000483577
dbSNP Id: rs1064796433

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46039096_46039108delinsCAT , CM000679.2:g.46039096_46039108delinsCAT GRCh38
NC_000017.10:g.44116462_44116474delinsCAT , CM000679.1:g.44116462_44116474delinsCAT GRCh37
NC_000017.9:g.41472309_41472321delinsCAT NCBI36
NG_032784.1:g.191267_191279delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2311_2323delinsATG MANE Select ENSP00000387393.3:p.Leu771MetfsTer13
ENST00000572904.6:c.2311_2323delinsATG ENSP00000461484.1:p.Leu771MetfsTer13
ENST00000573286.2:n.3994_4006delinsATG
ENST00000574590.6:c.2311_2323delinsATG ENSP00000461812.2:p.Leu771MetfsTer13
ENST00000575318.6:c.2204-422_2204-410delinsATG ENSP00000461299.1:n.2204-422_2204-410deli...
ENST00000638275.1:c.2204-422_2204-410delinsATG ENSP00000492576.1:n.2204-422_2204-410deli...
ENST00000639150.1:c.1045_1057delinsATG ENSP00000491906.1:p.Leu349MetfsTer13
ENST00000639531.1:c.2204-422_2204-410delinsATG ENSP00000491765.1:n.2204-422_2204-410deli...
ENST00000639853.1:c.1375-422_1375-410delinsATG
ENST00000640636.1:c.346-422_346-410delinsATG
ENST00000648792.1:c.2311_2323delinsATG ENSP00000497628.1:p.Leu771MetfsTer13
ENST00000262419.10:c.2311_2323delinsATG ENSP00000262419.6:p.Leu771MetfsTer13
ENST00000432791.5:c.2311_2323delinsATG ENSP00000387393.2:p.Leu771MetfsTer13
ENST00000572218.5:n.6528_6540delinsATG
ENST00000572679.1:n.443_455delinsATG
ENST00000572904.5:c.2311_2323delinsATG ENSP00000461484.1:p.Leu771MetfsTer13
ENST00000573286.1:n.167_179delinsATG
ENST00000574590.5:c.2311_2323delinsATG ENSP00000461812.1:p.Leu771MetfsTer13
ENST00000575318.5:c.2204-422_2204-410delinsATG ENSP00000461299.1:n.2204-422_2204-410deli...
ENST00000576870.5:n.365-422_365-410delinsATG
NM_001193465.1:c.2311_2323delinsATG NP_001180394.1:p.Leu771MetfsTer13
NM_001193466.1:c.2311_2323delinsATG NP_001180395.1:p.Leu771MetfsTer13
NM_015443.3:c.2311_2323delinsATG NP_056258.1:p.Leu771MetfsTer13
XM_006721823.1:c.2311_2323delinsATG XP_006721886.1:p.Leu771MetfsTer13
XM_006721824.2:c.2311_2323delinsATG XP_006721887.1:p.Leu771MetfsTer13
XM_011524628.1:c.2311_2323delinsATG XP_011522930.1:p.Leu771MetfsTer13
XM_011524629.1:c.2209_2221delinsATG XP_011522931.1:p.Leu737MetfsTer13
XM_011524630.1:c.2204-422_2204-410delinsATG XP_011522932.1:n.2204-422_2204-410delinsA...
XM_011524631.1:c.2204-422_2204-410delinsATG XP_011522933.1:n.2204-422_2204-410delinsA...
XM_011524632.1:c.1081_1093delinsATG XP_011522934.1:p.Leu361MetfsTer13
XM_006721823.2:c.2311_2323delinsATG XP_006721886.1:p.Leu771MetfsTer13
XM_006721824.4:c.2311_2323delinsATG XP_006721887.1:p.Leu771MetfsTer13
XM_011524628.3:c.2311_2323delinsATG XP_011522930.1:p.Leu771MetfsTer13
XM_011524629.3:c.2209_2221delinsATG XP_011522931.1:p.Leu737MetfsTer13
XM_011524630.3:c.2204-422_2204-410delinsATG XP_011522932.1:n.2204-422_2204-410delinsA...
XM_011524631.3:c.2204-422_2204-410delinsATG XP_011522933.1:n.2204-422_2204-410delinsA...
XM_011524632.3:c.1081_1093delinsATG XP_011522934.1:p.Leu361MetfsTer13
XM_017024488.2:c.2204-422_2204-410delinsATG XP_016879977.1:n.2204-422_2204-410delinsA...
XM_017024489.1:c.2209_2221delinsATG XP_016879978.1:p.Leu737MetfsTer13
NM_001193466.2:c.2311_2323delinsATG NP_001180395.1:p.Leu771MetfsTer13
NM_015443.4:c.2311_2323delinsATG MANE Select NP_056258.1:p.Leu771MetfsTer13
NM_001193465.2:c.2311_2323delinsATG NP_001180394.1:p.Leu771MetfsTer13
NM_001379198.1:c.2311_2323delinsATG NP_001366127.1:p.Leu771MetfsTer13