Canonical Allele Identifier: CA16603353
Gene: CIT HGNC NCBI

Linked Data

ClinVar Variation Id: 377365
ClinVar RCV Id: RCV000431888
dbSNP Id: rs1057520205

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119803384dup , CM000674.2:g.119803384dup GRCh38
NC_000012.11:g.120241188dup , CM000674.1:g.120241188dup GRCh37
NC_000012.10:g.118725571dup NCBI36
NG_029792.1:g.78913dup

Transcript Alleles

HGVS Amino-acid change
ENST00000392521.7:c.1122dup MANE Select ENSP00000376306.2:p.Phe375LeufsTer8
ENST00000545913.6:n.112dup
ENST00000676833.1:n.284dup
ENST00000676849.1:c.-217dup ENSP00000503214.1:n.-217dup
ENST00000677438.1:c.-217dup ENSP00000504095.1:n.-217dup
ENST00000677812.1:c.-217dup ENSP00000504400.1:n.-217dup
ENST00000677927.1:n.112dup
ENST00000677993.1:c.-217dup ENSP00000503765.1:n.-217dup
ENST00000678087.1:c.-217dup ENSP00000503863.1:n.-217dup
ENST00000678494.1:c.-217dup ENSP00000503854.1:n.-217dup
ENST00000678652.1:c.-217dup ENSP00000504849.1:n.-217dup
ENST00000678677.1:c.-217dup ENSP00000503253.1:n.-217dup
ENST00000678686.1:c.-217dup ENSP00000503624.1:n.-217dup
ENST00000679120.1:c.-217dup ENSP00000502891.1:n.-217dup
ENST00000679249.1:c.-217dup ENSP00000503976.1:n.-217dup
ENST00000261833.11:c.1122dup ENSP00000261833.7:p.Phe375LeufsTer8
ENST00000392521.6:c.1122dup ENSP00000376306.2:p.Phe375LeufsTer8
ENST00000488203.1:n.108dup
ENST00000536325.1:c.267+46795dup ENSP00000443199.1:n.267+46795dup
ENST00000539413.1:n.340dup
ENST00000545913.5:n.393dup
ENST00000612548.4:c.1122dup ENSP00000482318.1:p.Phe375LeufsTer8
NM_001206999.1:c.1122dup NP_001193928.1:p.Phe375LeufsTer8
NM_007174.2:c.1122dup NP_009105.1:p.Phe375LeufsTer8
XM_006719206.2:c.1122dup XP_006719269.1:p.Phe375LeufsTer8
XM_011537783.1:c.1122dup XP_011536085.1:p.Phe375LeufsTer8
XM_011537784.1:c.1122dup XP_011536086.1:p.Phe375LeufsTer8
XM_011537785.1:c.1122dup XP_011536087.1:p.Phe375LeufsTer8
XM_011537786.1:c.1122dup XP_011536088.1:p.Phe375LeufsTer8
XM_011537787.1:c.1122dup XP_011536089.1:p.Phe375LeufsTer8
XM_011537788.1:c.1122dup XP_011536090.1:p.Phe375LeufsTer8
XM_011537789.1:c.-217dup XP_011536091.1:n.-217dup
XM_011537790.1:c.-43-18314dup XP_011536092.1:n.-43-18314dup
XM_011537792.1:c.-1048dup XP_011536094.1:n.-1048dup
XM_011537790.2:c.-43-18314dup XP_011536092.1:n.-43-18314dup
XM_011537791.2:c.-1048dup XP_011536093.1:n.-1048dup
XM_011537792.2:c.-1048dup XP_011536094.1:n.-1048dup
XM_017018735.1:c.1122dup XP_016874224.1:p.Phe375LeufsTer8
XM_017018736.1:c.1122dup XP_016874225.1:p.Phe375LeufsTer8
XM_017018737.1:c.1122dup XP_016874226.1:p.Phe375LeufsTer8
XM_017018739.1:c.-1048dup XP_016874228.1:n.-1048dup
NM_001206999.2:c.1122dup MANE Select NP_001193928.1:p.Phe375LeufsTer8
NM_007174.3:c.1122dup NP_009105.1:p.Phe375LeufsTer8