Canonical Allele Identifier: CA399987564
Community Standard Title: NM_015443.4(KANSL1):c.2802G>A (p.Trp934Ter)
Gene: KANSL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46033115C>T , CM000679.2:g.46033115C>T GRCh38
NC_000017.10:g.44110481C>T , CM000679.1:g.44110481C>T GRCh37
NC_000017.9:g.41466328C>T NCBI36
NG_032784.1:g.197260G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015443.4:c.2802G>A MANE Select NP_056258.1:p.Trp934Ter
ENST00000432791.7:c.2802G>A MANE Select ENSP00000387393.3:p.Trp934Ter
NM_001193465.1:c.2799G>A NP_001180394.1:p.Trp933Ter
NM_001193465.2:c.2799G>A NP_001180394.1:p.Trp933Ter
NM_001193466.1:c.2802G>A NP_001180395.1:p.Trp934Ter
NM_001193466.2:c.2802G>A NP_001180395.1:p.Trp934Ter
NM_001379198.1:c.2802G>A NP_001366127.1:p.Trp934Ter
NM_015443.3:c.2802G>A NP_056258.1:p.Trp934Ter
ENST00000262419.10:c.2802G>A ENSP00000262419.6:p.Trp934Ter
ENST00000432791.5:c.2799G>A ENSP00000387393.2:p.Trp933Ter
ENST00000572218.5:n.7019G>A
ENST00000572904.5:c.2802G>A ENSP00000461484.1:p.Trp934Ter
ENST00000572904.6:c.2802G>A ENSP00000461484.1:p.Trp934Ter
ENST00000573682.1:n.188G>A
ENST00000574590.5:c.2802G>A ENSP00000461812.1:p.Trp934Ter
ENST00000574590.6:c.2799G>A ENSP00000461812.2:p.Trp933Ter
ENST00000575318.5:c.2610G>A ENSP00000461299.1:p.Trp870Ter
ENST00000575318.6:c.2610G>A ENSP00000461299.1:p.Trp870Ter
ENST00000576137.1:n.441G>A
ENST00000576137.2:n.799G>A
ENST00000576870.5:n.774G>A
ENST00000638275.1:c.2610G>A ENSP00000492576.1:p.Trp870Ter
ENST00000638291.1:n.630G>A
ENST00000638551.1:n.750G>A
ENST00000639150.1:c.1536G>A ENSP00000491906.1:p.Trp512Ter
ENST00000639467.1:c.459G>A ENSP00000492741.1:p.Trp153Ter
ENST00000639531.1:c.2613G>A ENSP00000491765.1:p.Trp871Ter
ENST00000639805.1:n.219G>A
ENST00000640092.1:n.1489G>A
ENST00000640519.1:n.1900G>A
ENST00000640751.1:n.397G>A
ENST00000648792.1:c.2802G>A ENSP00000497628.1:p.Trp934Ter
XM_006721823.1:c.2802G>A XP_006721886.1:p.Trp934Ter
XM_006721823.2:c.2802G>A XP_006721886.1:p.Trp934Ter
XM_006721824.2:c.2802G>A XP_006721887.1:p.Trp934Ter
XM_006721824.4:c.2802G>A XP_006721887.1:p.Trp934Ter
XM_011524628.1:c.2799G>A XP_011522930.1:p.Trp933Ter
XM_011524628.3:c.2799G>A XP_011522930.1:p.Trp933Ter
XM_011524629.1:c.2700G>A XP_011522931.1:p.Trp900Ter
XM_011524629.3:c.2700G>A XP_011522931.1:p.Trp900Ter
XM_011524630.1:c.2613G>A XP_011522932.1:p.Trp871Ter
XM_011524630.3:c.2613G>A XP_011522932.1:p.Trp871Ter
XM_011524631.1:c.2610G>A XP_011522933.1:p.Trp870Ter
XM_011524631.3:c.2610G>A XP_011522933.1:p.Trp870Ter
XM_011524632.1:c.1572G>A XP_011522934.1:p.Trp524Ter
XM_011524632.3:c.1572G>A XP_011522934.1:p.Trp524Ter
XM_017024488.2:c.2610G>A XP_016879977.1:p.Trp870Ter