Canonical Allele Identifier: CA590936448

Gene: CRB2

Linked Data

• dbSNP Id: rs1471003696
• gnomAD v2: 9-126139357-G-GGCACCA
• gnomAD v4: 9-123377078-G-GGCACCA
• MyVariant Identifiers: chr9:g.126139357_126139358insGCACCA (hg19) ; chr9:g.123377078_123377079insGCACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377084_123377089dup , CM000671.2:g.123377084_123377089dup	GRCh38
NC_000009.11:g.126139363_126139368dup , CM000671.1:g.126139363_126139368dup	GRCh37
NC_000009.10:g.125179184_125179189dup	NCBI36
NG_051311.1:g.28020_28025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*22_*27dup MANE Select	ENSP00000362734.3:n.*22_*27dup
ENST00000373631.7:c.*22_*27dup	ENSP00000362734.3:n.*22_*27dup
ENST00000460253.1:c.*22_*27dup	ENSP00000435279.1:n.*22_*27dup
NM_173689.6:c.*22_*27dup	NP_775960.4:n.*22_*27dup
NR_104603.1:n.2994_2999dup
XM_005251934.1:c.*22_*27dup	XP_005251991.1:n.*22_*27dup
XM_011518556.1:c.*22_*27dup	XP_011516858.1:n.*22_*27dup
XM_011518557.1:c.*22_*27dup	XP_011516859.1:n.*22_*27dup
XM_011518558.1:c.*22_*27dup	XP_011516860.1:n.*22_*27dup
XM_005251934.3:c.*22_*27dup	XP_005251991.1:n.*22_*27dup
XM_011518556.3:c.*22_*27dup	XP_011516858.1:n.*22_*27dup
XM_011518557.3:c.*22_*27dup	XP_011516859.1:n.*22_*27dup
XM_011518558.3:c.*22_*27dup	XP_011516860.1:n.*22_*27dup
NM_173689.7:c.*22_*27dup MANE Select	NP_775960.4:n.*22_*27dup
NR_104603.2:n.2994_2999dup