Canonical Allele Identifier: CA7723732

Linked Data

ClinVar Variation Id: 408200
dbSNP Id: rs758597713

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89306150del , CM000677.2:g.89306150del GRCh38
NC_000015.9:g.89849381del , CM000677.1:g.89849381del GRCh37
NC_000015.8:g.87650385del NCBI36
NG_011736.1:g.67188del , LRG_500:g.67188del
NG_008218.2:g.33647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696717.1:c.3214del (FANCI) ENSP00000512830.1:p.Asp1072ThrfsTer?
ENST00000696718.1:c.2956del (FANCI) ENSP00000512831.1:p.Asp986ThrfsTer?
ENST00000696719.1:c.3493del (FANCI) ENSP00000512832.1:p.Asp1165ThrfsTer?
ENST00000696721.1:n.5078del (FANCI)
ENST00000310775.12:c.3493del (FANCI) MANE Select ENSP00000310842.8:p.Asp1165ThrfsTer?
ENST00000635831.1:c.74-925del (POLG)
ENST00000674831.1:c.3493del (FANCI) ENSP00000502474.1:p.Asp1165ThrfsTer?
ENST00000676003.1:c.3451del (FANCI) ENSP00000502254.1:p.Asp1151ThrfsTer?
ENST00000300027.12:c.3313del (FANCI) ENSP00000300027.8:p.Asp1105ThrfsTer?
ENST00000310775.11:c.3493del (FANCI) ENSP00000310842.7:p.Asp1165ThrfsTer?
ENST00000447611.6:c.3169+452del (FANCI) ENSP00000413249.2:n.3169+452del
ENST00000561894.1:c.2789del (FANCI)
ENST00000565522.5:n.130-6754del (FANCI)
ENST00000566895.5:n.3500del (FANCI)
NM_001113378.1:c.3493del , LRG_500t1:c.3493del (FANCI) NP_001106849.1:p.Asp1165ThrfsTer?
NM_018193.2:c.3313del (FANCI) NP_060663.2:p.Asp1105ThrfsTer?
XM_011521756.1:c.3493del (FANCI) XP_011520058.1:p.Asp1165ThrfsTer?
XM_011521757.1:c.3493del (FANCI) XP_011520059.1:p.Asp1165ThrfsTer?
XM_011521758.1:c.3493del (FANCI) XP_011520060.1:p.Asp1165ThrfsTer?
XM_011521759.1:c.3493del (FANCI) XP_011520061.1:p.Asp1165ThrfsTer?
XM_011521760.1:c.3493del (FANCI) XP_011520062.1:p.Asp1165ThrfsTer?
XM_011521761.1:c.3493del (FANCI) XP_011520063.1:p.Asp1165ThrfsTer?
XM_011521762.1:c.3493del (FANCI) XP_011520064.1:p.Asp1165ThrfsTer?
XM_011521763.1:c.3451del (FANCI) XP_011520065.1:p.Asp1151ThrfsTer?
XM_011521764.1:c.3313del (FANCI) XP_011520066.1:p.Asp1105ThrfsTer?
XM_011521765.1:c.3214del (FANCI) XP_011520067.1:p.Asp1072ThrfsTer?
XM_011521766.1:c.3214del (FANCI) XP_011520068.1:p.Asp1072ThrfsTer?
XM_011521767.1:c.3214del (FANCI) XP_011520069.1:p.Asp1072ThrfsTer?
XM_011521768.1:c.3493del (FANCI) XP_011520070.1:p.Asp1165ThrfsTer?
XM_011521769.1:c.3148del (FANCI) XP_011520071.1:p.Asp1050ThrfsTer?
XM_011521756.2:c.3493del (FANCI) XP_011520058.1:p.Asp1165ThrfsTer?
XM_011521757.2:c.3493del (FANCI) XP_011520059.1:p.Asp1165ThrfsTer?
XM_011521764.2:c.3313del (FANCI) XP_011520066.1:p.Asp1105ThrfsTer?
XM_011521767.2:c.3214del (FANCI) XP_011520069.1:p.Asp1072ThrfsTer?
NM_001113378.2:c.3493del (FANCI) MANE Select NP_001106849.1:p.Asp1165ThrfsTer?
NM_001376910.1:c.3214del (FANCI) NP_001363839.1:p.Asp1072ThrfsTer?
NM_001376911.1:c.3493del (FANCI) NP_001363840.1:p.Asp1165ThrfsTer?
NM_018193.3:c.3313del (FANCI) NP_060663.2:p.Asp1105ThrfsTer?