Canonical Allele Identifier: CA2714134010

Linked Data

dbSNP Id: rs57557825

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50474908_50474914dup , CM000669.2:g.50474908_50474914dup GRCh38
NC_000007.13:g.50542606_50542612dup , CM000669.1:g.50542606_50542612dup GRCh37
NC_000007.12:g.50510100_50510106dup NCBI36
NG_008742.1:g.95547_95553dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.1041+1714_1041+1720dup (DDC) MANE Select ENSP00000403644.2:n.1041+1714_1041+1720dup
ENST00000357936.9:c.1041+1714_1041+1720dup (DDC) ENSP00000350616.5:n.1041+1714_1041+1720dup
ENST00000426377.5:c.807+1714_807+1720dup (DDC) ENSP00000395069.1:n.807+1714_807+1720dup
ENST00000430300.5:c.683+1714_683+1720dup (DDC)
ENST00000431062.5:c.762+1714_762+1720dup (DDC) ENSP00000399184.1:n.762+1714_762+1720dup
ENST00000444124.6:c.1041+1714_1041+1720dup (DDC) ENSP00000403644.2:n.1041+1714_1041+1720dup
ENST00000444733.5:c.*142+1714_*142+1720dup (DDC) ENSP00000393724.1:n.*142+1714_*142+1720dup
ENST00000494914.1:n.197+1714_197+1720dup (DDC)
ENST00000613602.3:c.-10-27613_-10-27607dup (FIGNL1) ENSP00000481751.1:n.-10-27613_-10-27607dup
ENST00000615193.4:c.762+1714_762+1720dup (DDC) ENSP00000484104.1:n.762+1714_762+1720dup
ENST00000617822.4:c.897+1714_897+1720dup (DDC) ENSP00000478385.1:n.897+1714_897+1720dup
ENST00000622873.4:c.927+1714_927+1720dup (DDC) ENSP00000479110.1:n.927+1714_927+1720dup
NM_000790.3:c.1041+1714_1041+1720dup (DDC) NP_000781.1:n.1041+1714_1041+1720dup
NM_001082971.1:c.1041+1714_1041+1720dup (DDC) NP_001076440.1:n.1041+1714_1041+1720dup
NM_001242886.1:c.927+1714_927+1720dup (DDC) NP_001229815.1:n.927+1714_927+1720dup
NM_001242887.1:c.897+1714_897+1720dup (DDC) NP_001229816.1:n.897+1714_897+1720dup
NM_001242888.1:c.807+1714_807+1720dup (DDC) NP_001229817.1:n.807+1714_807+1720dup
NM_001242889.1:c.762+1714_762+1720dup (DDC) NP_001229818.1:n.762+1714_762+1720dup
XM_005271745.3:c.927+1714_927+1720dup (DDC) XP_005271802.1:n.927+1714_927+1720dup
XM_011515161.1:c.690+1714_690+1720dup (DDC) XP_011513463.1:n.690+1714_690+1720dup
XM_005271745.4:c.927+1714_927+1720dup (DDC) XP_005271802.1:n.927+1714_927+1720dup
XM_011515161.2:c.984+1714_984+1720dup (DDC) XP_011513463.2:n.984+1714_984+1720dup
NM_001082971.2:c.1041+1714_1041+1720dup (DDC) MANE Select NP_001076440.2:n.1041+1714_1041+1720dup
NM_000790.4:c.1041+1714_1041+1720dup (DDC) NP_000781.2:n.1041+1714_1041+1720dup
NM_001242888.2:c.807+1714_807+1720dup (DDC) NP_001229817.2:n.807+1714_807+1720dup
NM_001242886.2:c.927+1714_927+1720dup (DDC) NP_001229815.2:n.927+1714_927+1720dup
NM_001242887.2:c.897+1714_897+1720dup (DDC) NP_001229816.2:n.897+1714_897+1720dup
NM_001242889.2:c.762+1714_762+1720dup (DDC) NP_001229818.2:n.762+1714_762+1720dup