Canonical Allele Identifier: CA5232600

Gene: CRB2

Linked Data

• dbSNP Id: rs773048424
• ExAC: 9:126139196 TCCTGGG / T
• gnomAD v2: 9-126139196-TCCTGGG-T
• gnomAD v4: 9-123376917-TCCTGGG-T
• MyVariant Identifiers: chr9:g.126139197_126139202del (hg19) ; chr9:g.123376918_123376923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376921_123376926del , CM000671.2:g.123376921_123376926del	GRCh38
NC_000009.11:g.126139200_126139205del , CM000671.1:g.126139200_126139205del	GRCh37
NC_000009.10:g.125179021_125179026del	NCBI36
NG_051311.1:g.27857_27862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3717_3722del MANE Select	ENSP00000362734.3:p.Gly1240_Leu1241del
ENST00000373631.7:c.3717_3722del	ENSP00000362734.3:p.Gly1240_Leu1241del
ENST00000460253.1:c.2721_2726del	ENSP00000435279.1:p.Gly908_Leu909del
NM_173689.6:c.3717_3722del	NP_775960.4:p.Gly1240_Leu1241del
NR_104603.1:n.2831_2836del
XM_005251934.1:c.2721_2726del	XP_005251991.1:p.Gly908_Leu909del
XM_011518556.1:c.3690_3695del	XP_011516858.1:p.Gly1231_Leu1232del
XM_011518557.1:c.3522_3527del	XP_011516859.1:p.Gly1175_Leu1176del
XM_011518558.1:c.3522_3527del	XP_011516860.1:p.Gly1175_Leu1176del
XM_005251934.3:c.2721_2726del	XP_005251991.1:p.Gly908_Leu909del
XM_011518556.3:c.3690_3695del	XP_011516858.1:p.Gly1231_Leu1232del
XM_011518557.3:c.3522_3527del	XP_011516859.1:p.Gly1175_Leu1176del
XM_011518558.3:c.3522_3527del	XP_011516860.1:p.Gly1175_Leu1176del
NM_173689.7:c.3717_3722del MANE Select	NP_775960.4:p.Gly1240_Leu1241del
NR_104603.2:n.2831_2836del