Canonical Allele Identifier: CA467090158

Gene: CRB2

Linked Data

• dbSNP Id: rs767432277
• gnomAD v2: 9-126139181-GCCTCCTCCT-G
• gnomAD v3: 9-123376902-GCCTCCTCCT-G
• gnomAD v4: 9-123376902-GCCTCCTCCT-G
• MyVariant Identifiers: chr9:g.126139182_126139190del (hg19) ; chr9:g.123376903_123376911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376912_123376920del , CM000671.2:g.123376912_123376920del	GRCh38
NC_000009.11:g.126139191_126139199del , CM000671.1:g.126139191_126139199del	GRCh37
NC_000009.10:g.125179012_125179020del	NCBI36
NG_051311.1:g.27848_27856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3708_3716del MANE Select	ENSP00000362734.3:p.Leu1237_Leu1239del
ENST00000373631.7:c.3708_3716del	ENSP00000362734.3:p.Leu1237_Leu1239del
ENST00000460253.1:c.2712_2720del	ENSP00000435279.1:p.Leu905_Leu907del
NM_173689.6:c.3708_3716del	NP_775960.4:p.Leu1237_Leu1239del
NR_104603.1:n.2822_2830del
XM_005251934.1:c.2712_2720del	XP_005251991.1:p.Leu905_Leu907del
XM_011518556.1:c.3681_3689del	XP_011516858.1:p.Leu1228_Leu1230del
XM_011518557.1:c.3513_3521del	XP_011516859.1:p.Leu1172_Leu1174del
XM_011518558.1:c.3513_3521del	XP_011516860.1:p.Leu1172_Leu1174del
XM_005251934.3:c.2712_2720del	XP_005251991.1:p.Leu905_Leu907del
XM_011518556.3:c.3681_3689del	XP_011516858.1:p.Leu1228_Leu1230del
XM_011518557.3:c.3513_3521del	XP_011516859.1:p.Leu1172_Leu1174del
XM_011518558.3:c.3513_3521del	XP_011516860.1:p.Leu1172_Leu1174del
NM_173689.7:c.3708_3716del MANE Select	NP_775960.4:p.Leu1237_Leu1239del
NR_104603.2:n.2822_2830del