Canonical Allele Identifier: CA2775392719

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50485298_50485300del , CM000669.2:g.50485298_50485300del GRCh38
NC_000007.13:g.50552996_50552998del , CM000669.1:g.50552996_50552998del GRCh37
NC_000007.12:g.50520490_50520492del NCBI36
NG_008742.1:g.85160_85162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.945-5434_945-5432del (DDC) MANE Select ENSP00000403644.2:n.945-5434_945-5432del
ENST00000357936.9:c.945-5434_945-5432del (DDC) ENSP00000350616.5:n.945-5434_945-5432del
ENST00000426377.5:c.711-5434_711-5432del (DDC) ENSP00000395069.1:n.711-5434_711-5432del
ENST00000430300.5:c.587-5434_587-5432del (DDC)
ENST00000431062.5:c.666-5434_666-5432del (DDC) ENSP00000399184.1:n.666-5434_666-5432del
ENST00000444124.6:c.945-5434_945-5432del (DDC) ENSP00000403644.2:n.945-5434_945-5432del
ENST00000444733.5:c.*46-5434_*46-5432del (DDC) ENSP00000393724.1:n.*46-5434_*46-5432del
ENST00000613602.3:c.-10-38000_-10-37998del (FIGNL1) ENSP00000481751.1:n.-10-38000_-10-37998del
ENST00000615193.4:c.666-5434_666-5432del (DDC) ENSP00000484104.1:n.666-5434_666-5432del
ENST00000617822.4:c.801-5434_801-5432del (DDC) ENSP00000478385.1:n.801-5434_801-5432del
ENST00000622873.4:c.831-5434_831-5432del (DDC) ENSP00000479110.1:n.831-5434_831-5432del
NM_000790.3:c.945-5434_945-5432del (DDC) NP_000781.1:n.945-5434_945-5432del
NM_001082971.1:c.945-5434_945-5432del (DDC) NP_001076440.1:n.945-5434_945-5432del
NM_001242886.1:c.831-5434_831-5432del (DDC) NP_001229815.1:n.831-5434_831-5432del
NM_001242887.1:c.801-5434_801-5432del (DDC) NP_001229816.1:n.801-5434_801-5432del
NM_001242888.1:c.711-5434_711-5432del (DDC) NP_001229817.1:n.711-5434_711-5432del
NM_001242889.1:c.666-5434_666-5432del (DDC) NP_001229818.1:n.666-5434_666-5432del
XM_005271745.3:c.831-5434_831-5432del (DDC) XP_005271802.1:n.831-5434_831-5432del
XM_011515161.1:c.594-5434_594-5432del (DDC) XP_011513463.1:n.594-5434_594-5432del
XM_005271745.4:c.831-5434_831-5432del (DDC) XP_005271802.1:n.831-5434_831-5432del
XM_011515161.2:c.888-5434_888-5432del (DDC) XP_011513463.2:n.888-5434_888-5432del
NM_001082971.2:c.945-5434_945-5432del (DDC) MANE Select NP_001076440.2:n.945-5434_945-5432del
NM_000790.4:c.945-5434_945-5432del (DDC) NP_000781.2:n.945-5434_945-5432del
NM_001242888.2:c.711-5434_711-5432del (DDC) NP_001229817.2:n.711-5434_711-5432del
NM_001242886.2:c.831-5434_831-5432del (DDC) NP_001229815.2:n.831-5434_831-5432del
NM_001242887.2:c.801-5434_801-5432del (DDC) NP_001229816.2:n.801-5434_801-5432del
NM_001242889.2:c.666-5434_666-5432del (DDC) NP_001229818.2:n.666-5434_666-5432del