Canonical Allele Identifier: CA2616632139
Gene: ROBO3 HGNC NCBI

Linked Data

gnomAD v4: 11-124872988-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872990dup , CM000673.2:g.124872990dup GRCh38
NC_000011.9:g.124742886dup , CM000673.1:g.124742886dup GRCh37
NC_000011.8:g.124248096dup NCBI36
NG_016214.1:g.12582dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1437dup MANE Select ENSP00000380903.1:p.Pro480ThrfsTer16
ENST00000397801.5:c.1437dup ENSP00000380903.1:p.Pro480ThrfsTer16
ENST00000538940.5:c.1371dup ENSP00000441797.1:p.Pro458ThrfsTer16
NM_022370.3:c.1437dup NP_071765.2:p.Pro480ThrfsTer16
XM_011542953.1:c.2409dup XP_011541255.1:p.Pro804ThrfsTer16
XM_017018122.1:c.1371dup XP_016873611.1:p.Pro458ThrfsTer16
NM_022370.4:c.1437dup MANE Select NP_071765.2:p.Pro480ThrfsTer16
Search 100 bp 5'
Search 100 bp 3'