Canonical Allele Identifier: CA2262191174
Gene: KANSL1 HGNC NCBI

Linked Data

dbSNP Id: rs2047372863

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46192300_46192302del , CM000679.2:g.46192300_46192302del GRCh38
NC_000017.10:g.44269666_44269668del , CM000679.1:g.44269666_44269668del GRCh37
NC_000017.9:g.41625443_41625445del NCBI36
NG_032784.1:g.38075_38077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432791.7:c.-90+523_-90+525del MANE Select ENSP00000387393.3:n.-90+523_-90+525del
ENST00000571698.2:c.-90+1450_-90+1452del ENSP00000459330.2:n.-90+1450_-90+1452del
ENST00000572904.6:c.-89-20068_-89-20066del ENSP00000461484.1:n.-89-20068_-89-20066del
ENST00000574590.6:c.-89-20068_-89-20066del ENSP00000461812.2:n.-89-20068_-89-20066del
ENST00000574655.6:n.166-20068_166-20066del
ENST00000575318.6:c.-89-20068_-89-20066del ENSP00000461299.1:n.-89-20068_-89-20066del
ENST00000576739.2:c.-89-20068_-89-20066del ENSP00000459627.1:n.-89-20068_-89-20066del
ENST00000638269.1:n.156-20068_156-20066del
ENST00000638275.1:c.-90+523_-90+525del ENSP00000492576.1:n.-90+523_-90+525del
ENST00000638902.1:n.16-20068_16-20066del
ENST00000639099.1:n.162-20068_162-20066del
ENST00000639150.1:c.23+31371_23+31373del ENSP00000491906.1:n.23+31371_23+31373del
ENST00000639356.1:n.162-20068_162-20066del
ENST00000639375.1:n.150-20068_150-20066del
ENST00000648792.1:c.-89-20068_-89-20066del ENSP00000497628.1:n.-89-20068_-89-20066del
ENST00000262419.10:c.-90+119_-90+121del ENSP00000262419.6:n.-90+119_-90+121del
ENST00000432791.5:c.-89-20068_-89-20066del ENSP00000387393.2:n.-89-20068_-89-20066del
ENST00000571698.1:c.-90+1450_-90+1452del ENSP00000459330.1:n.-90+1450_-90+1452del
ENST00000572904.5:c.-90+523_-90+525del ENSP00000461484.1:n.-90+523_-90+525del
ENST00000574590.5:c.-89-20068_-89-20066del ENSP00000461812.1:n.-89-20068_-89-20066del
ENST00000574655.5:c.-89-20068_-89-20066del ENSP00000459359.1:n.-89-20068_-89-20066del
ENST00000576739.1:c.-89-20068_-89-20066del ENSP00000459627.1:n.-89-20068_-89-20066del
NM_001193465.1:c.-89-20068_-89-20066del NP_001180394.1:n.-89-20068_-89-20066del
NM_001193466.1:c.-90+119_-90+121del NP_001180395.1:n.-90+119_-90+121del
NM_015443.3:c.-90+523_-90+525del NP_056258.1:n.-90+523_-90+525del
XM_006721823.1:c.-89-20068_-89-20066del XP_006721886.1:n.-89-20068_-89-20066del
XM_006721824.2:c.-89-20068_-89-20066del XP_006721887.1:n.-89-20068_-89-20066del
XM_011524628.1:c.-89-20068_-89-20066del XP_011522930.1:n.-89-20068_-89-20066del
XM_011524629.1:c.-89-20068_-89-20066del XP_011522931.1:n.-89-20068_-89-20066del
XM_011524630.1:c.-89-20068_-89-20066del XP_011522932.1:n.-89-20068_-89-20066del
XM_011524631.1:c.-89-20068_-89-20066del XP_011522933.1:n.-89-20068_-89-20066del
XM_006721823.2:c.-89-20068_-89-20066del XP_006721886.1:n.-89-20068_-89-20066del
XM_006721824.4:c.-89-20068_-89-20066del XP_006721887.1:n.-89-20068_-89-20066del
XM_011524628.3:c.-89-20068_-89-20066del XP_011522930.1:n.-89-20068_-89-20066del
XM_011524629.3:c.-89-20068_-89-20066del XP_011522931.1:n.-89-20068_-89-20066del
XM_011524630.3:c.-89-20068_-89-20066del XP_011522932.1:n.-89-20068_-89-20066del
XM_011524631.3:c.-89-20068_-89-20066del XP_011522933.1:n.-89-20068_-89-20066del
XM_017024488.2:c.-89-20068_-89-20066del XP_016879977.1:n.-89-20068_-89-20066del
XM_017024489.1:c.-90+523_-90+525del XP_016879978.1:n.-90+523_-90+525del
NM_001193466.2:c.-90+119_-90+121del NP_001180395.1:n.-90+119_-90+121del
NM_015443.4:c.-90+523_-90+525del MANE Select NP_056258.1:n.-90+523_-90+525del
NM_001193465.2:c.-89-20068_-89-20066del NP_001180394.1:n.-89-20068_-89-20066del
NM_001379198.1:c.-89-20068_-89-20066del NP_001366127.1:n.-89-20068_-89-20066del