Canonical Allele Identifier: CA5232396

Gene: CRB2

Linked Data

• dbSNP Id: rs752999904
• ExAC: 9:126136056 C / CGGCCCGGGGTGGGAA
• gnomAD v2: 9-126136056-C-CGGCCCGGGGTGGGAA
• gnomAD v3: 9-123373777-C-CGGCCCGGGGTGGGAA
• gnomAD v4: 9-123373777-C-CGGCCCGGGGTGGGAA
• MyVariant Identifiers: chr9:g.126136056_126136057insGGCCCGGGGTGGGAA (hg19) ; chr9:g.123373777_123373778insGGCCCGGGGTGGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373784_123373798dup , CM000671.2:g.123373784_123373798dup	GRCh38
NC_000009.11:g.126136063_126136077dup , CM000671.1:g.126136063_126136077dup	GRCh37
NC_000009.10:g.125175884_125175898dup	NCBI36
NG_051311.1:g.24720_24734dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000373631.8:c.3253_3267dup MANE Select	ENSP00000362734.3:p.Pro1089_Arg1090insGlyTrpGluGlyPro
ENST00000359999.7:c.3253_3267dup	ENSP00000353092.3:p.Pro1089_Arg1090insGlyTrpGluGlyPro
ENST00000373631.7:c.3253_3267dup	ENSP00000362734.3:p.Pro1089_Arg1090insGlyTrpGluGlyPro
ENST00000460253.1:c.2257_2271dup	ENSP00000435279.1:p.Pro757_Arg758insGlyTrpGluGlyPro
NM_173689.6:c.3253_3267dup	NP_775960.4:p.Pro1089_Arg1090insGlyTrpGluGlyPro
NR_104603.1:n.2367_2381dup
XM_005251934.1:c.2257_2271dup	XP_005251991.1:p.Pro757_Arg758insGlyTrpGluGlyPro
XM_011518556.1:c.3226_3240dup	XP_011516858.1:p.Pro1080_Arg1081insGlyTrpGluGlyPro
XM_011518557.1:c.3058_3072dup	XP_011516859.1:p.Pro1024_Arg1025insGlyTrpGluGlyPro
XM_011518558.1:c.3058_3072dup	XP_011516860.1:p.Pro1024_Arg1025insGlyTrpGluGlyPro
XM_005251934.3:c.2257_2271dup	XP_005251991.1:p.Pro757_Arg758insGlyTrpGluGlyPro
XM_011518556.3:c.3226_3240dup	XP_011516858.1:p.Pro1080_Arg1081insGlyTrpGluGlyPro
XM_011518557.3:c.3058_3072dup	XP_011516859.1:p.Pro1024_Arg1025insGlyTrpGluGlyPro
XM_011518558.3:c.3058_3072dup	XP_011516860.1:p.Pro1024_Arg1025insGlyTrpGluGlyPro
NM_173689.7:c.3253_3267dup MANE Select	NP_775960.4:p.Pro1089_Arg1090insGlyTrpGluGlyPro
NR_104603.2:n.2367_2381dup