Canonical Allele Identifier: CA1706635348

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495219_50495220delinsAG , CM000669.2:g.50495219_50495220delinsAG GRCh38
NC_000007.13:g.50562917_50562918delinsAG , CM000669.1:g.50562917_50562918delinsAG GRCh37
NC_000007.12:g.50530411_50530412delinsAG NCBI36
NG_008742.1:g.75237_75238delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.944+130_944+131delinsCT (DDC) MANE Select ENSP00000403644.2:n.944+130_944+131delinsCT
ENST00000357936.9:c.944+130_944+131delinsCT (DDC) ENSP00000350616.5:n.944+130_944+131delinsCT
ENST00000380984.4:c.944+130_944+131delinsCT (DDC) ENSP00000370371.4:n.944+130_944+131delinsCT
ENST00000426377.5:c.710+130_710+131delinsCT (DDC) ENSP00000395069.1:n.710+130_710+131delinsCT
ENST00000430300.5:c.586+130_586+131delinsCT (DDC)
ENST00000431062.5:c.665+130_665+131delinsCT (DDC) ENSP00000399184.1:n.665+130_665+131delinsCT
ENST00000444124.6:c.944+130_944+131delinsCT (DDC) ENSP00000403644.2:n.944+130_944+131delinsCT
ENST00000444733.5:c.*45+130_*45+131delinsCT (DDC) ENSP00000393724.1:n.*45+130_*45+131delinsCT
ENST00000613602.3:c.-11+47298_-11+47299delinsCT (FIGNL1) ENSP00000481751.1:n.-11+47298_-11+47299delinsCT
ENST00000615193.4:c.665+130_665+131delinsCT (DDC) ENSP00000484104.1:n.665+130_665+131delinsCT
ENST00000617822.4:c.800+130_800+131delinsCT (DDC) ENSP00000478385.1:n.800+130_800+131delinsCT
ENST00000622873.4:c.830+130_830+131delinsCT (DDC) ENSP00000479110.1:n.830+130_830+131delinsCT
NM_000790.3:c.944+130_944+131delinsCT (DDC) NP_000781.1:n.944+130_944+131delinsCT
NM_001082971.1:c.944+130_944+131delinsCT (DDC) NP_001076440.1:n.944+130_944+131delinsCT
NM_001242886.1:c.830+130_830+131delinsCT (DDC) NP_001229815.1:n.830+130_830+131delinsCT
NM_001242887.1:c.800+130_800+131delinsCT (DDC) NP_001229816.1:n.800+130_800+131delinsCT
NM_001242888.1:c.710+130_710+131delinsCT (DDC) NP_001229817.1:n.710+130_710+131delinsCT
NM_001242889.1:c.665+130_665+131delinsCT (DDC) NP_001229818.1:n.665+130_665+131delinsCT
NM_001242890.1:c.944+130_944+131delinsCT (DDC) NP_001229819.1:n.944+130_944+131delinsCT
XM_005271745.3:c.830+130_830+131delinsCT (DDC) XP_005271802.1:n.830+130_830+131delinsCT
XM_011515161.1:c.593+130_593+131delinsCT (DDC) XP_011513463.1:n.593+130_593+131delinsCT
XM_005271745.4:c.830+130_830+131delinsCT (DDC) XP_005271802.1:n.830+130_830+131delinsCT
XM_011515161.2:c.887+130_887+131delinsCT (DDC) XP_011513463.2:n.887+130_887+131delinsCT
NM_001082971.2:c.944+130_944+131delinsCT (DDC) MANE Select NP_001076440.2:n.944+130_944+131delinsCT
NM_000790.4:c.944+130_944+131delinsCT (DDC) NP_000781.2:n.944+130_944+131delinsCT
NM_001242888.2:c.710+130_710+131delinsCT (DDC) NP_001229817.2:n.710+130_710+131delinsCT
NM_001242890.2:c.944+130_944+131delinsCT (DDC) NP_001229819.2:n.944+130_944+131delinsCT
NM_001242886.2:c.830+130_830+131delinsCT (DDC) NP_001229815.2:n.830+130_830+131delinsCT
NM_001242887.2:c.800+130_800+131delinsCT (DDC) NP_001229816.2:n.800+130_800+131delinsCT
NM_001242889.2:c.665+130_665+131delinsCT (DDC) NP_001229818.2:n.665+130_665+131delinsCT