Canonical Allele Identifier: CA5232628

Gene: CRB2

Linked Data

• dbSNP Id: rs770560420
• ExAC: 9:126139369 TG / T
• gnomAD v2: 9-126139369-TG-T
• gnomAD v3: 9-123377090-TG-T
• gnomAD v4: 9-123377090-TG-T
• MyVariant Identifiers: chr9:g.126139370del (hg19) ; chr9:g.123377092del (hg38) ; chr9:g.123377091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377092del , CM000671.2:g.123377092del	GRCh38
NC_000009.11:g.126139371del , CM000671.1:g.126139371del	GRCh37
NC_000009.10:g.125179192del	NCBI36
NG_051311.1:g.28028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*30del MANE Select	ENSP00000362734.3:n.*30del
ENST00000373631.7:c.*30del	ENSP00000362734.3:n.*30del
ENST00000460253.1:c.*30del	ENSP00000435279.1:n.*30del
NM_173689.6:c.*30del	NP_775960.4:n.*30del
NR_104603.1:n.3002del
XM_005251934.1:c.*30del	XP_005251991.1:n.*30del
XM_011518556.1:c.*30del	XP_011516858.1:n.*30del
XM_011518557.1:c.*30del	XP_011516859.1:n.*30del
XM_011518558.1:c.*30del	XP_011516860.1:n.*30del
XM_005251934.3:c.*30del	XP_005251991.1:n.*30del
XM_011518556.3:c.*30del	XP_011516858.1:n.*30del
XM_011518557.3:c.*30del	XP_011516859.1:n.*30del
XM_011518558.3:c.*30del	XP_011516860.1:n.*30del
NM_173689.7:c.*30del MANE Select	NP_775960.4:n.*30del
NR_104603.2:n.3002del