Canonical Allele Identifier: CA1706622063

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50474882_50474883delinsAC , CM000669.2:g.50474882_50474883delinsAC GRCh38
NC_000007.13:g.50542580_50542581delinsAC , CM000669.1:g.50542580_50542581delinsAC GRCh37
NC_000007.12:g.50510074_50510075delinsAC NCBI36
NG_008742.1:g.95574_95575delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.1041+1741_1041+1742delinsGT (DDC) MANE Select ENSP00000403644.2:n.1041+1741_1041+1742delinsGT
ENST00000357936.9:c.1041+1741_1041+1742delinsGT (DDC) ENSP00000350616.5:n.1041+1741_1041+1742delinsGT
ENST00000426377.5:c.807+1741_807+1742delinsGT (DDC) ENSP00000395069.1:n.807+1741_807+1742delinsGT
ENST00000430300.5:c.683+1741_683+1742delinsGT (DDC)
ENST00000431062.5:c.762+1741_762+1742delinsGT (DDC) ENSP00000399184.1:n.762+1741_762+1742delinsGT
ENST00000444124.6:c.1041+1741_1041+1742delinsGT (DDC) ENSP00000403644.2:n.1041+1741_1041+1742delinsGT
ENST00000444733.5:c.*142+1741_*142+1742delinsGT (DDC) ENSP00000393724.1:n.*142+1741_*142+1742delinsGT
ENST00000494914.1:n.197+1741_197+1742delinsGT (DDC)
ENST00000613602.3:c.-10-27586_-10-27585delinsGT (FIGNL1) ENSP00000481751.1:n.-10-27586_-10-27585delinsGT
ENST00000615193.4:c.762+1741_762+1742delinsGT (DDC) ENSP00000484104.1:n.762+1741_762+1742delinsGT
ENST00000617822.4:c.897+1741_897+1742delinsGT (DDC) ENSP00000478385.1:n.897+1741_897+1742delinsGT
ENST00000622873.4:c.927+1741_927+1742delinsGT (DDC) ENSP00000479110.1:n.927+1741_927+1742delinsGT
NM_000790.3:c.1041+1741_1041+1742delinsGT (DDC) NP_000781.1:n.1041+1741_1041+1742delinsGT
NM_001082971.1:c.1041+1741_1041+1742delinsGT (DDC) NP_001076440.1:n.1041+1741_1041+1742delinsGT
NM_001242886.1:c.927+1741_927+1742delinsGT (DDC) NP_001229815.1:n.927+1741_927+1742delinsGT
NM_001242887.1:c.897+1741_897+1742delinsGT (DDC) NP_001229816.1:n.897+1741_897+1742delinsGT
NM_001242888.1:c.807+1741_807+1742delinsGT (DDC) NP_001229817.1:n.807+1741_807+1742delinsGT
NM_001242889.1:c.762+1741_762+1742delinsGT (DDC) NP_001229818.1:n.762+1741_762+1742delinsGT
XM_005271745.3:c.927+1741_927+1742delinsGT (DDC) XP_005271802.1:n.927+1741_927+1742delinsGT
XM_011515161.1:c.690+1741_690+1742delinsGT (DDC) XP_011513463.1:n.690+1741_690+1742delinsGT
XM_005271745.4:c.927+1741_927+1742delinsGT (DDC) XP_005271802.1:n.927+1741_927+1742delinsGT
XM_011515161.2:c.984+1741_984+1742delinsGT (DDC) XP_011513463.2:n.984+1741_984+1742delinsGT
NM_001082971.2:c.1041+1741_1041+1742delinsGT (DDC) MANE Select NP_001076440.2:n.1041+1741_1041+1742delinsGT
NM_000790.4:c.1041+1741_1041+1742delinsGT (DDC) NP_000781.2:n.1041+1741_1041+1742delinsGT
NM_001242888.2:c.807+1741_807+1742delinsGT (DDC) NP_001229817.2:n.807+1741_807+1742delinsGT
NM_001242886.2:c.927+1741_927+1742delinsGT (DDC) NP_001229815.2:n.927+1741_927+1742delinsGT
NM_001242887.2:c.897+1741_897+1742delinsGT (DDC) NP_001229816.2:n.897+1741_897+1742delinsGT
NM_001242889.2:c.762+1741_762+1742delinsGT (DDC) NP_001229818.2:n.762+1741_762+1742delinsGT