Canonical Allele Identifier: CA1206550696

Gene: GORAB

Linked Data

• dbSNP Id: rs1649282069
• gnomAD v3: 1-170539570-TAGTA-T
• gnomAD v4: 1-170539570-TAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539574_170539577del , CM000663.2:g.170539574_170539577del	GRCh38
NC_000001.10:g.170508715_170508718del , CM000663.1:g.170508715_170508718del	GRCh37
NC_000001.9:g.168775339_168775342del	NCBI36
NG_012237.1:g.12453_12456del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.395_398del
ENST00000685515.1:c.*283+7_*283+10del	ENSP00000509073.1:n.*283+7_*283+10del
ENST00000685976.1:n.524+7_524+10del
ENST00000686135.1:n.1886_1889del
ENST00000686870.1:c.423+3_423+6del
ENST00000687370.1:n.3435+7_3435+10del
ENST00000687880.1:c.*417+3_*417+6del
ENST00000688499.1:c.*287+3_*287+6del
ENST00000688688.1:c.368+7_368+10del	ENSP00000510426.1:n.368+7_368+10del
ENST00000689173.1:c.*417+3_*417+6del
ENST00000690124.1:n.583+7_583+10del
ENST00000690898.1:n.612+3_612+6del
ENST00000691199.1:n.191-2917_191-2914del
ENST00000691235.1:n.139-2917_139-2914del
ENST00000691574.1:n.460_463del
ENST00000692234.1:c.*283+7_*283+10del	ENSP00000508508.1:n.*283+7_*283+10del
ENST00000692855.1:n.574+3_574+6del
ENST00000692875.1:c.372+3_372+6del
ENST00000693173.1:c.*417+3_*417+6del
ENST00000693373.1:n.411+3_411+6del
ENST00000367762.2:c.419+7_419+10del	ENSP00000356736.2:n.419+7_419+10del
ENST00000367763.8:c.419+7_419+10del MANE Select	ENSP00000356737.4:n.419+7_419+10del
ENST00000498166.6:c.*413+7_*413+10del	ENSP00000473336.2:n.*413+7_*413+10del
ENST00000367762.1:c.494+7_494+10del	ENSP00000356736.1:n.494+7_494+10del
ENST00000367763.7:c.494+7_494+10del	ENSP00000356737.3:n.494+7_494+10del
ENST00000465717.1:n.512_515del
ENST00000498166.5:c.792+7_792+10del
ENST00000498600.2:n.510+3_510+6del
NM_001146039.1:c.494+7_494+10del	NP_001139511.1:n.494+7_494+10del
NM_152281.2:c.494+7_494+10del	NP_689494.2:n.494+7_494+10del
NR_027397.1:n.525+3_525+6del
XM_006711628.2:c.-47+3_-47+6del
XM_006711629.2:c.-47+7_-47+10del	XP_006711692.1:n.-47+7_-47+10del
XM_011510149.1:c.443+7_443+10del	XP_011508451.1:n.443+7_443+10del
XM_011510150.1:c.-47+3_-47+6del
XM_011510151.1:c.-47+3_-47+6del
NM_001320252.1:c.-47+7_-47+10del	NP_001307181.1:n.-47+7_-47+10del
XM_006711628.4:c.-47+3_-47+6del
XM_011510149.2:c.443+7_443+10del	XP_011508451.1:n.443+7_443+10del
XM_011510150.3:c.-47+3_-47+6del
XM_017002807.1:c.-47+3_-47+6del
XM_024450864.1:c.-47+7_-47+10del	XP_024306632.1:n.-47+7_-47+10del
NM_001146039.2:c.419+7_419+10del	NP_001139511.2:n.419+7_419+10del
NM_001320252.2:c.-47+7_-47+10del	NP_001307181.1:n.-47+7_-47+10del
NM_152281.3:c.419+7_419+10del MANE Select	NP_689494.3:n.419+7_419+10del
NR_027397.2:n.481+3_481+6del