Canonical Allele Identifier: CA2322925029
Gene: ODAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 996146
ClinVar RCV Id: RCV001290436
dbSNP Id: rs1969172237

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11422809_11422812dup , CM000681.2:g.11422809_11422812dup GRCh38
NC_000019.9:g.11533477_11533480dup , CM000681.1:g.11533477_11533480dup GRCh37
NC_000019.8:g.11394477_11394480dup NCBI36
NG_041777.1:g.17971_17974dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356392.9:c.1166_1169dup MANE Select ENSP00000348757.3:p.Leu391AspfsTer?
ENST00000356392.8:c.1166_1169dup ENSP00000348757.3:p.Leu391AspfsTer?
ENST00000586836.5:c.593_596dup ENSP00000467429.1:p.Leu200AspfsTer?
ENST00000591179.5:c.986_989dup ENSP00000466800.1:p.Leu331AspfsTer?
ENST00000591345.5:c.*1085_*1088dup ENSP00000467313.1:n.*1085_*1088dup
NM_001302453.1:c.1004_1007dup NP_001289382.1:p.Leu337AspfsTer?
NM_001302454.1:c.986_989dup NP_001289383.1:p.Leu331AspfsTer?
NM_145045.4:c.1166_1169dup NP_659482.3:p.Leu391AspfsTer?
XM_017026241.1:c.*60_*63dup XP_016881730.1:n.*60_*63dup
NM_145045.5:c.1166_1169dup MANE Select NP_659482.3:p.Leu391AspfsTer?
NM_001302454.2:c.986_989dup NP_001289383.1:p.Leu331AspfsTer?