Canonical Allele Identifier: CA2499214316
Community Standard Title: NM_152281.3(GORAB):c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC (p.Pro30GlufsTer?)
Gene: GORAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170539235_170539355delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC , CM000663.2:g.170539235_170539355delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC GRCh38
NC_000001.10:g.170508376_170508496delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC , CM000663.1:g.170508376_170508496delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC GRCh37
NC_000001.9:g.168775000_168775120delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC NCBI36
NG_012237.1:g.12114_12234delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC

Transcript Alleles

HGVS Amino-acid Change
NM_152281.3:c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC MANE Select NP_689494.3:p.Pro30GlufsTer?
ENST00000367763.8:c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC MANE Select ENSP00000356737.4:p.Pro30GlufsTer?
NM_001146039.1:c.162_282delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC NP_001139511.1:p.Pro55GlufsTer?
NM_001146039.2:c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC NP_001139511.2:p.Pro30GlufsTer?
NM_001320252.1:c.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC NP_001307181.1:n.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
NM_001320252.2:c.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC NP_001307181.1:n.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
NM_152281.2:c.162_282delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC NP_689494.2:p.Pro55GlufsTer?
NR_027397.1:n.189_309delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
NR_027397.2:n.145_265delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000367762.1:c.162_282delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000356736.1:p.Pro55GlufsTer?
ENST00000367762.2:c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000356736.2:p.Pro30GlufsTer?
ENST00000367763.7:c.162_282delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000356737.3:p.Pro55GlufsTer?
ENST00000465717.1:n.173_293delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000498166.5:c.460_580delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000498166.6:c.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000473336.2:n.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCC...
ENST00000498600.2:n.174_294delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000684929.1:n.56_176delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000685515.1:c.275_*71delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000509073.1:n.[c.275_*71delinsGGAGGTCTCTGGAACCTCATTACTT...
ENST00000685976.1:n.192_312delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000686135.1:n.1547_1667delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000686870.1:c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000510121.1:p.Pro30GlufsTer?
ENST00000687370.1:n.3103_3223delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000687880.1:c.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000508486.1:n.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCC...
ENST00000688499.1:c.275_*71delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000509581.1:n.[c.275_*71delinsGGAGGTCTCTGGAACCTCATTACTT...
ENST00000688688.1:c.36_156delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000510426.1:p.Pro13GlufsTer?
ENST00000689173.1:c.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000509341.1:n.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCC...
ENST00000690124.1:n.251_371delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000690898.1:n.276_396delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000691199.1:n.191-3256_191-3136delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000691235.1:n.139-3256_139-3136delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000691574.1:n.121_241delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000692234.1:c.275_*71delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000508508.1:n.[c.275_*71delinsGGAGGTCTCTGGAACCTCATTACTT...
ENST00000692855.1:n.238_358delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
ENST00000692875.1:c.36_156delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000508785.1:p.Pro13GlufsTer?
ENST00000693173.1:c.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC ENSP00000510143.1:n.*81_*201delinsGGAGGTCTCTGGAACCTCATTACTTCC...
ENST00000693373.1:n.75_195delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC
XM_006711628.2:c.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_006711691.1:n.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_006711628.4:c.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_006711691.1:n.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_006711629.2:c.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_006711692.1:n.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_011510149.1:c.111_231delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_011508451.1:p.Pro38GlufsTer?
XM_011510149.2:c.111_231delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_011508451.1:p.Pro38GlufsTer?
XM_011510150.1:c.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_011508452.1:n.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_011510150.3:c.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_011508452.1:n.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_011510151.1:c.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_011508453.1:n.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_017002807.1:c.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_016858296.1:n.-383_-263delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...
XM_024450864.1:c.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC XP_024306632.1:n.-379_-259delinsGGAGGTCTCTGGAACCTCATTACTTCCAG...