Canonical Allele Identifier: CA2501539467

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50475046_50475047del , CM000669.2:g.50475046_50475047del GRCh38
NC_000007.13:g.50542744_50542745del , CM000669.1:g.50542744_50542745del GRCh37
NC_000007.12:g.50510238_50510239del NCBI36
NG_008742.1:g.95411_95412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.1041+1578_1041+1579del (DDC) MANE Select ENSP00000403644.2:n.1041+1578_1041+1579del
ENST00000357936.9:c.1041+1578_1041+1579del (DDC) ENSP00000350616.5:n.1041+1578_1041+1579del
ENST00000426377.5:c.807+1578_807+1579del (DDC) ENSP00000395069.1:n.807+1578_807+1579del
ENST00000430300.5:c.683+1578_683+1579del (DDC)
ENST00000431062.5:c.762+1578_762+1579del (DDC) ENSP00000399184.1:n.762+1578_762+1579del
ENST00000444124.6:c.1041+1578_1041+1579del (DDC) ENSP00000403644.2:n.1041+1578_1041+1579del
ENST00000444733.5:c.*142+1578_*142+1579del (DDC) ENSP00000393724.1:n.*142+1578_*142+1579del
ENST00000494914.1:n.197+1578_197+1579del (DDC)
ENST00000613602.3:c.-10-27749_-10-27748del (FIGNL1) ENSP00000481751.1:n.-10-27749_-10-27748del
ENST00000615193.4:c.762+1578_762+1579del (DDC) ENSP00000484104.1:n.762+1578_762+1579del
ENST00000617822.4:c.897+1578_897+1579del (DDC) ENSP00000478385.1:n.897+1578_897+1579del
ENST00000622873.4:c.927+1578_927+1579del (DDC) ENSP00000479110.1:n.927+1578_927+1579del
NM_000790.3:c.1041+1578_1041+1579del (DDC) NP_000781.1:n.1041+1578_1041+1579del
NM_001082971.1:c.1041+1578_1041+1579del (DDC) NP_001076440.1:n.1041+1578_1041+1579del
NM_001242886.1:c.927+1578_927+1579del (DDC) NP_001229815.1:n.927+1578_927+1579del
NM_001242887.1:c.897+1578_897+1579del (DDC) NP_001229816.1:n.897+1578_897+1579del
NM_001242888.1:c.807+1578_807+1579del (DDC) NP_001229817.1:n.807+1578_807+1579del
NM_001242889.1:c.762+1578_762+1579del (DDC) NP_001229818.1:n.762+1578_762+1579del
XM_005271745.3:c.927+1578_927+1579del (DDC) XP_005271802.1:n.927+1578_927+1579del
XM_011515161.1:c.690+1578_690+1579del (DDC) XP_011513463.1:n.690+1578_690+1579del
XM_005271745.4:c.927+1578_927+1579del (DDC) XP_005271802.1:n.927+1578_927+1579del
XM_011515161.2:c.984+1578_984+1579del (DDC) XP_011513463.2:n.984+1578_984+1579del
NM_001082971.2:c.1041+1578_1041+1579del (DDC) MANE Select NP_001076440.2:n.1041+1578_1041+1579del
NM_000790.4:c.1041+1578_1041+1579del (DDC) NP_000781.2:n.1041+1578_1041+1579del
NM_001242888.2:c.807+1578_807+1579del (DDC) NP_001229817.2:n.807+1578_807+1579del
NM_001242886.2:c.927+1578_927+1579del (DDC) NP_001229815.2:n.927+1578_927+1579del
NM_001242887.2:c.897+1578_897+1579del (DDC) NP_001229816.2:n.897+1578_897+1579del
NM_001242889.2:c.762+1578_762+1579del (DDC) NP_001229818.2:n.762+1578_762+1579del