Canonical Allele Identifier: CA5232618

Gene: CRB2

Linked Data

• ClinVar Variation Id: 1989924
• ClinVar RCV Id: RCV002786752
• dbSNP Id: rs760480460
• ExAC: 9:126139306 GTCC / G
• gnomAD v2: 9-126139306-GTCC-G
• gnomAD v3: 9-123377027-GTCC-G
• gnomAD v4: 9-123377027-GTCC-G
• MyVariant Identifiers: chr9:g.126139307_126139309del (hg19) ; chr9:g.123377028_123377030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377030_123377032del , CM000671.2:g.123377030_123377032del	GRCh38
NC_000009.11:g.126139309_126139311del , CM000671.1:g.126139309_126139311del	GRCh37
NC_000009.10:g.125179130_125179132del	NCBI36
NG_051311.1:g.27966_27968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3826_3828del MANE Select	ENSP00000362734.3:p.Leu1276del
ENST00000373631.7:c.3826_3828del	ENSP00000362734.3:p.Leu1276del
ENST00000460253.1:c.2830_2832del	ENSP00000435279.1:p.Leu944del
NM_173689.6:c.3826_3828del	NP_775960.4:p.Leu1276del
NR_104603.1:n.2940_2942del
XM_005251934.1:c.2830_2832del	XP_005251991.1:p.Leu944del
XM_011518556.1:c.3799_3801del	XP_011516858.1:p.Leu1267del
XM_011518557.1:c.3631_3633del	XP_011516859.1:p.Leu1211del
XM_011518558.1:c.3631_3633del	XP_011516860.1:p.Leu1211del
XM_005251934.3:c.2830_2832del	XP_005251991.1:p.Leu944del
XM_011518556.3:c.3799_3801del	XP_011516858.1:p.Leu1267del
XM_011518557.3:c.3631_3633del	XP_011516859.1:p.Leu1211del
XM_011518558.3:c.3631_3633del	XP_011516860.1:p.Leu1211del
NM_173689.7:c.3826_3828del MANE Select	NP_775960.4:p.Leu1276del
NR_104603.2:n.2940_2942del