Canonical Allele Identifier: CA5232590

Gene: CRB2

Linked Data

• ClinVar Variation Id: 1108885
• ClinVar RCV Id: RCV001434521 ; RCV003151318 ; RCV004550162 ; RCV003355476
• dbSNP Id: rs767432277
• ExAC: 9:126139181 G / GCCT
• gnomAD v2: 9-126139181-G-GCCT
• gnomAD v3: 9-123376902-G-GCCT
• gnomAD v4: 9-123376902-G-GCCT
• MyVariant Identifiers: chr9:g.126139190_126139191insCCT (hg19) ; chr9:g.126139187_126139188insCCT (hg19) ; chr9:g.126139184_126139185insCCT (hg19) ; chr9:g.126139181_126139182insCCT (hg19) ; chr9:g.123376911_123376912insCCT (hg38) ; chr9:g.123376902_123376903insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376918_123376920dup , CM000671.2:g.123376918_123376920dup	GRCh38
NC_000009.11:g.126139197_126139199dup , CM000671.1:g.126139197_126139199dup	GRCh37
NC_000009.10:g.125179018_125179020dup	NCBI36
NG_051311.1:g.27854_27856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3714_3716dup MANE Select	ENSP00000362734.3:p.Leu1239_Gly1240insLeu
ENST00000373631.7:c.3714_3716dup	ENSP00000362734.3:p.Leu1239_Gly1240insLeu
ENST00000460253.1:c.2718_2720dup	ENSP00000435279.1:p.Leu907_Gly908insLeu
NM_173689.6:c.3714_3716dup	NP_775960.4:p.Leu1239_Gly1240insLeu
NR_104603.1:n.2828_2830dup
XM_005251934.1:c.2718_2720dup	XP_005251991.1:p.Leu907_Gly908insLeu
XM_011518556.1:c.3687_3689dup	XP_011516858.1:p.Leu1230_Gly1231insLeu
XM_011518557.1:c.3519_3521dup	XP_011516859.1:p.Leu1174_Gly1175insLeu
XM_011518558.1:c.3519_3521dup	XP_011516860.1:p.Leu1174_Gly1175insLeu
XM_005251934.3:c.2718_2720dup	XP_005251991.1:p.Leu907_Gly908insLeu
XM_011518556.3:c.3687_3689dup	XP_011516858.1:p.Leu1230_Gly1231insLeu
XM_011518557.3:c.3519_3521dup	XP_011516859.1:p.Leu1174_Gly1175insLeu
XM_011518558.3:c.3519_3521dup	XP_011516860.1:p.Leu1174_Gly1175insLeu
NM_173689.7:c.3714_3716dup MANE Select	NP_775960.4:p.Leu1239_Gly1240insLeu
NR_104603.2:n.2828_2830dup