Canonical Allele Identifier: CA6821103
Community Standard Title: NM_001206999.2(CIT):c.4854+36dup
Gene: CIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119712142dup , CM000674.2:g.119712142dup GRCh38
NC_000012.11:g.120149947dup , CM000674.1:g.120149947dup GRCh37
NC_000012.10:g.118634330dup NCBI36
NG_029792.1:g.170149dup

Transcript Alleles

HGVS Amino-acid Change
NM_001206999.2:c.4854+36dup MANE Select NP_001193928.1:n.4854+36dup
ENST00000392521.7:c.4854+36dup MANE Select ENSP00000376306.2:n.4854+36dup
NM_001206999.1:c.4854+36dup NP_001193928.1:n.4854+36dup
NM_007174.2:c.4728+36dup NP_009105.1:n.4728+36dup
NM_007174.3:c.4728+36dup NP_009105.1:n.4728+36dup
ENST00000261833.11:c.4728+36dup ENSP00000261833.7:n.4728+36dup
ENST00000392520.2:c.3566+36dup
ENST00000392521.6:c.4854+36dup ENSP00000376306.2:n.4854+36dup
ENST00000537607.5:n.3581+36dup
ENST00000543324.2:n.1411+36dup
ENST00000545913.5:n.4725+36dup
ENST00000545913.6:n.5496dup
ENST00000612548.4:c.1442-24078dup ENSP00000482318.1:n.1442-24078dup
ENST00000676693.1:n.2271+36dup
ENST00000676833.1:n.4214+36dup
ENST00000676849.1:c.3471+36dup ENSP00000503214.1:n.3471+36dup
ENST00000677438.1:c.*3960+36dup ENSP00000504095.1:n.*3960+36dup
ENST00000677738.1:n.2006+36dup
ENST00000677812.1:c.*4074+36dup ENSP00000504400.1:n.*4074+36dup
ENST00000677849.1:c.*3960+36dup ENSP00000503820.1:n.*3960+36dup
ENST00000677993.1:c.3459+36dup ENSP00000503765.1:n.3459+36dup
ENST00000678087.1:c.3345+36dup ENSP00000503863.1:n.3345+36dup
ENST00000678236.1:n.4793dup
ENST00000678494.1:c.1227-25108dup ENSP00000503854.1:n.1227-25108dup
ENST00000678652.1:c.3471+36dup ENSP00000504849.1:n.3471+36dup
ENST00000678677.1:c.3258+36dup ENSP00000503253.1:n.3258+36dup
ENST00000679120.1:c.*2861+36dup ENSP00000502891.1:n.*2861+36dup
ENST00000679249.1:c.3471+36dup ENSP00000503976.1:n.3471+36dup
ENST00000679285.1:n.2305+36dup
XM_006719206.2:c.4809+36dup XP_006719269.1:n.4809+36dup
XM_011537783.1:c.4854+36dup XP_011536085.1:n.4854+36dup
XM_011537784.1:c.4854+36dup XP_011536086.1:n.4854+36dup
XM_011537785.1:c.4809+36dup XP_011536087.1:n.4809+36dup
XM_011537786.1:c.4728+36dup XP_011536088.1:n.4728+36dup
XM_011537787.1:c.4683+36dup XP_011536089.1:n.4683+36dup
XM_011537788.1:c.4683+36dup XP_011536090.1:n.4683+36dup
XM_011537789.1:c.3516+36dup XP_011536091.1:n.3516+36dup
XM_011537790.1:c.3516+36dup XP_011536092.1:n.3516+36dup
XM_011537790.2:c.3516+36dup XP_011536092.1:n.3516+36dup
XM_011537791.1:c.3456+36dup XP_011536093.1:n.3456+36dup
XM_011537791.2:c.3456+36dup XP_011536093.1:n.3456+36dup
XM_011537792.1:c.3285+36dup XP_011536094.1:n.3285+36dup
XM_011537792.2:c.3285+36dup XP_011536094.1:n.3285+36dup
XM_017018735.1:c.4854+36dup XP_016874224.1:n.4854+36dup
XM_017018736.1:c.4809+36dup XP_016874225.1:n.4809+36dup
XM_017018737.1:c.4809+36dup XP_016874226.1:n.4809+36dup
XM_017018738.1:c.3330+36dup XP_016874227.1:n.3330+36dup
XM_017018739.1:c.3285+36dup XP_016874228.1:n.3285+36dup