Canonical Allele Identifier: CA1101201268

Linked Data

dbSNP Id: rs2042615438

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50475229_50475230insGGATGC , CM000669.2:g.50475229_50475230insGGATGC GRCh38
NC_000007.13:g.50542927_50542928insGGATGC , CM000669.1:g.50542927_50542928insGGATGC GRCh37
NC_000007.12:g.50510421_50510422insGGATGC NCBI36
NG_008742.1:g.95227_95228insGCATCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.1041+1394_1041+1395insGCATCC (DDC) MANE Select ENSP00000403644.2:n.1041+1394_1041+1395insGCATCC
ENST00000357936.9:c.1041+1394_1041+1395insGCATCC (DDC) ENSP00000350616.5:n.1041+1394_1041+1395insGCATCC
ENST00000426377.5:c.807+1394_807+1395insGCATCC (DDC) ENSP00000395069.1:n.807+1394_807+1395insGCATCC
ENST00000430300.5:c.683+1394_683+1395insGCATCC (DDC)
ENST00000431062.5:c.762+1394_762+1395insGCATCC (DDC) ENSP00000399184.1:n.762+1394_762+1395insGCATCC
ENST00000444124.6:c.1041+1394_1041+1395insGCATCC (DDC) ENSP00000403644.2:n.1041+1394_1041+1395insGCATCC
ENST00000444733.5:c.*142+1394_*142+1395insGCATCC (DDC) ENSP00000393724.1:n.*142+1394_*142+1395insGCATCC
ENST00000494914.1:n.197+1394_197+1395insGCATCC (DDC)
ENST00000613602.3:c.-10-27933_-10-27932insGCATCC (FIGNL1) ENSP00000481751.1:n.-10-27933_-10-27932insGCATCC
ENST00000615193.4:c.762+1394_762+1395insGCATCC (DDC) ENSP00000484104.1:n.762+1394_762+1395insGCATCC
ENST00000617822.4:c.897+1394_897+1395insGCATCC (DDC) ENSP00000478385.1:n.897+1394_897+1395insGCATCC
ENST00000622873.4:c.927+1394_927+1395insGCATCC (DDC) ENSP00000479110.1:n.927+1394_927+1395insGCATCC
NM_000790.3:c.1041+1394_1041+1395insGCATCC (DDC) NP_000781.1:n.1041+1394_1041+1395insGCATCC
NM_001082971.1:c.1041+1394_1041+1395insGCATCC (DDC) NP_001076440.1:n.1041+1394_1041+1395insGCATCC
NM_001242886.1:c.927+1394_927+1395insGCATCC (DDC) NP_001229815.1:n.927+1394_927+1395insGCATCC
NM_001242887.1:c.897+1394_897+1395insGCATCC (DDC) NP_001229816.1:n.897+1394_897+1395insGCATCC
NM_001242888.1:c.807+1394_807+1395insGCATCC (DDC) NP_001229817.1:n.807+1394_807+1395insGCATCC
NM_001242889.1:c.762+1394_762+1395insGCATCC (DDC) NP_001229818.1:n.762+1394_762+1395insGCATCC
XM_005271745.3:c.927+1394_927+1395insGCATCC (DDC) XP_005271802.1:n.927+1394_927+1395insGCATCC
XM_011515161.1:c.690+1394_690+1395insGCATCC (DDC) XP_011513463.1:n.690+1394_690+1395insGCATCC
XM_005271745.4:c.927+1394_927+1395insGCATCC (DDC) XP_005271802.1:n.927+1394_927+1395insGCATCC
XM_011515161.2:c.984+1394_984+1395insGCATCC (DDC) XP_011513463.2:n.984+1394_984+1395insGCATCC
NM_001082971.2:c.1041+1394_1041+1395insGCATCC (DDC) MANE Select NP_001076440.2:n.1041+1394_1041+1395insGCATCC
NM_000790.4:c.1041+1394_1041+1395insGCATCC (DDC) NP_000781.2:n.1041+1394_1041+1395insGCATCC
NM_001242888.2:c.807+1394_807+1395insGCATCC (DDC) NP_001229817.2:n.807+1394_807+1395insGCATCC
NM_001242886.2:c.927+1394_927+1395insGCATCC (DDC) NP_001229815.2:n.927+1394_927+1395insGCATCC
NM_001242887.2:c.897+1394_897+1395insGCATCC (DDC) NP_001229816.2:n.897+1394_897+1395insGCATCC
NM_001242889.2:c.762+1394_762+1395insGCATCC (DDC) NP_001229818.2:n.762+1394_762+1395insGCATCC