Canonical Allele Identifier: CA10609696
Community Standard Title: NM_001164688.2(RD3):c.*1583del
Gene: RD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.211477453del , CM000663.2:g.211477453del GRCh38
NC_000001.10:g.211650795del , CM000663.1:g.211650795del GRCh37
NC_000001.9:g.209717418del NCBI36
NG_013042.1:g.20465del

Transcript Alleles

HGVS Amino-acid Change
NM_001164688.2:c.*1583del MANE Select NP_001158160.1:n.*1583del
ENST00000680073.1:c.*1583del MANE Select ENSP00000505312.1:n.*1583del
NM_001164688.1:c.*1583del NP_001158160.1:n.*1583del
NM_183059.2:c.*1583del NP_898882.1:n.*1583del
NM_183059.3:c.*1583del NP_898882.1:n.*1583del
ENST00000367002.4:c.*1583del ENSP00000355969.4:n.*1583del
ENST00000367002.5:c.*1583del ENSP00000355969.4:n.*1583del
ENST00000484910.1:n.2139del
XM_011509479.1:c.*1583del XP_011507781.1:n.*1583del
XM_017001151.1:c.*1583del XP_016856640.1:n.*1583del