Canonical Allele Identifier: CA2513075195

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50485331_50485332insGAAGTAGCTCAGTTGAGGATGAATTGGGCGTATTTCT , CM000669.2:g.50485331_50485332insGAAGTAGCTCAGTTGAGGATGAATTGGGCGTATTTCT GRCh38
NC_000007.13:g.50553029_50553030insGAAGTAGCTCAGTTGAGGATGAATTGGGCGTATTTCT , CM000669.1:g.50553029_50553030insGAAGTAGCTCAGTTGAGGATGAATTGGGCGTATTTCT GRCh37
NC_000007.12:g.50520523_50520524insGAAGTAGCTCAGTTGAGGATGAATTGGGCGTATTTCT NCBI36
NG_008742.1:g.85125_85126insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) MANE Select ENSP00000403644.2:n.945-5469_945-5468insAGAAATACGCCCAATTCATCC...
ENST00000357936.9:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000350616.5:n.945-5469_945-5468insAGAAATACGCCCAATTCATCC...
ENST00000426377.5:c.711-5469_711-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000395069.1:n.711-5469_711-5468insAGAAATACGCCCAATTCATCC...
ENST00000430300.5:c.587-5469_587-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC)
ENST00000431062.5:c.666-5469_666-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000399184.1:n.666-5469_666-5468insAGAAATACGCCCAATTCATCC...
ENST00000444124.6:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000403644.2:n.945-5469_945-5468insAGAAATACGCCCAATTCATCC...
ENST00000444733.5:c.*46-5469_*46-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000393724.1:n.*46-5469_*46-5468insAGAAATACGCCCAATTCATCC...
ENST00000613602.3:c.-10-38035_-10-38034insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (FIGNL1) ENSP00000481751.1:n.-10-38035_-10-38034insAGAAATACGCCCAATTCAT...
ENST00000615193.4:c.666-5469_666-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000484104.1:n.666-5469_666-5468insAGAAATACGCCCAATTCATCC...
ENST00000617822.4:c.801-5469_801-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000478385.1:n.801-5469_801-5468insAGAAATACGCCCAATTCATCC...
ENST00000622873.4:c.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) ENSP00000479110.1:n.831-5469_831-5468insAGAAATACGCCCAATTCATCC...
NM_000790.3:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_000781.1:n.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACT...
NM_001082971.1:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001076440.1:n.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242886.1:c.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229815.1:n.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242887.1:c.801-5469_801-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229816.1:n.801-5469_801-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242888.1:c.711-5469_711-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229817.1:n.711-5469_711-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242889.1:c.666-5469_666-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229818.1:n.666-5469_666-5468insAGAAATACGCCCAATTCATCCTCA...
XM_005271745.3:c.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) XP_005271802.1:n.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCA...
XM_011515161.1:c.594-5469_594-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) XP_011513463.1:n.594-5469_594-5468insAGAAATACGCCCAATTCATCCTCA...
XM_005271745.4:c.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) XP_005271802.1:n.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCA...
XM_011515161.2:c.888-5469_888-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) XP_011513463.2:n.888-5469_888-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001082971.2:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) MANE Select NP_001076440.2:n.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCA...
NM_000790.4:c.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_000781.2:n.945-5469_945-5468insAGAAATACGCCCAATTCATCCTCAACT...
NM_001242888.2:c.711-5469_711-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229817.2:n.711-5469_711-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242886.2:c.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229815.2:n.831-5469_831-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242887.2:c.801-5469_801-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229816.2:n.801-5469_801-5468insAGAAATACGCCCAATTCATCCTCA...
NM_001242889.2:c.666-5469_666-5468insAGAAATACGCCCAATTCATCCTCAACTGAGCTACTTC (DDC) NP_001229818.2:n.666-5469_666-5468insAGAAATACGCCCAATTCATCCTCA...