Canonical Allele Identifier: CA2576299083
Gene: KANSL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46031502_46031503dup , CM000679.2:g.46031502_46031503dup GRCh38
NC_000017.10:g.44108868_44108869dup , CM000679.1:g.44108868_44108869dup GRCh37
NC_000017.9:g.41464715_41464716dup NCBI36
NG_032784.1:g.198874_198875dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000432791.7:c.3293_3294dup MANE Select ENSP00000387393.3:p.Ala1099GlnfsTer15
ENST00000572904.6:c.3293_3294dup ENSP00000461484.1:p.Ala1099GlnfsTer15
ENST00000574590.6:c.3290_3291dup ENSP00000461812.2:p.Ala1098GlnfsTer15
ENST00000575318.6:c.3101_3102dup ENSP00000461299.1:p.Ala1035GlnfsTer15
ENST00000638275.1:c.3101_3102dup ENSP00000492576.1:p.Ala1035GlnfsTer15
ENST00000648792.1:c.3161_3162dup ENSP00000497628.1:p.Ala1055GlnfsTer15
ENST00000262419.10:c.3293_3294dup ENSP00000262419.6:p.Ala1099GlnfsTer15
ENST00000432791.5:c.3290_3291dup ENSP00000387393.2:p.Ala1098GlnfsTer15
ENST00000572218.5:n.7510_7511dup
ENST00000572904.5:c.3293_3294dup ENSP00000461484.1:p.Ala1099GlnfsTer15
ENST00000574590.5:c.3293_3294dup ENSP00000461812.1:p.Ala1099GlnfsTer15
ENST00000574963.1:n.1066_1067dup
ENST00000575318.5:c.3101_3102dup ENSP00000461299.1:p.Ala1035GlnfsTer15
ENST00000576870.5:n.1265_1266dup
NM_001193465.1:c.3290_3291dup NP_001180394.1:p.Ala1098GlnfsTer15
NM_001193466.1:c.3293_3294dup NP_001180395.1:p.Ala1099GlnfsTer15
NM_015443.3:c.3293_3294dup NP_056258.1:p.Ala1099GlnfsTer15
XM_006721823.1:c.3293_3294dup XP_006721886.1:p.Ala1099GlnfsTer15
XM_006721824.2:c.3293_3294dup XP_006721887.1:p.Ala1099GlnfsTer15
XM_011524628.1:c.3290_3291dup XP_011522930.1:p.Ala1098GlnfsTer15
XM_011524629.1:c.3191_3192dup XP_011522931.1:p.Ala1065GlnfsTer15
XM_011524630.1:c.3104_3105dup XP_011522932.1:p.Ala1036GlnfsTer15
XM_011524631.1:c.3101_3102dup XP_011522933.1:p.Ala1035GlnfsTer15
XM_011524632.1:c.2063_2064dup XP_011522934.1:p.Ala689GlnfsTer15
XM_006721823.2:c.3293_3294dup XP_006721886.1:p.Ala1099GlnfsTer15
XM_006721824.4:c.3293_3294dup XP_006721887.1:p.Ala1099GlnfsTer15
XM_011524628.3:c.3290_3291dup XP_011522930.1:p.Ala1098GlnfsTer15
XM_011524629.3:c.3191_3192dup XP_011522931.1:p.Ala1065GlnfsTer15
XM_011524630.3:c.3104_3105dup XP_011522932.1:p.Ala1036GlnfsTer15
XM_011524631.3:c.3101_3102dup XP_011522933.1:p.Ala1035GlnfsTer15
XM_011524632.3:c.2063_2064dup XP_011522934.1:p.Ala689GlnfsTer15
XM_017024488.2:c.3101_3102dup XP_016879977.1:p.Ala1035GlnfsTer15
NM_001193466.2:c.3293_3294dup NP_001180395.1:p.Ala1099GlnfsTer15
NM_015443.4:c.3293_3294dup MANE Select NP_056258.1:p.Ala1099GlnfsTer15
NM_001193465.2:c.3290_3291dup NP_001180394.1:p.Ala1098GlnfsTer15
NM_001379198.1:c.3293_3294dup NP_001366127.1:p.Ala1099GlnfsTer15