Canonical Allele Identifier: CA590936429

Gene: CRB2

Linked Data

• dbSNP Id: rs1430936657
• gnomAD v2: 9-126139008-GCT-G
• gnomAD v3: 9-123376729-GCT-G
• gnomAD v4: 9-123376729-GCT-G
• MyVariant Identifiers: chr9:g.126139009_126139010del (hg19) ; chr9:g.123376730_123376731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376732_123376733del , CM000671.2:g.123376732_123376733del	GRCh38
NC_000009.11:g.126139011_126139012del , CM000671.1:g.126139011_126139012del	GRCh37
NC_000009.10:g.125178832_125178833del	NCBI36
NG_051311.1:g.27668_27669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3634-106_3634-105del MANE Select	ENSP00000362734.3:n.3634-106_3634-105del
ENST00000373631.7:c.3634-106_3634-105del	ENSP00000362734.3:n.3634-106_3634-105del
ENST00000460253.1:c.2638-106_2638-105del	ENSP00000435279.1:n.2638-106_2638-105del
NM_173689.6:c.3634-106_3634-105del	NP_775960.4:n.3634-106_3634-105del
NR_104603.1:n.2748-106_2748-105del
XM_005251934.1:c.2638-106_2638-105del	XP_005251991.1:n.2638-106_2638-105del
XM_011518556.1:c.3607-106_3607-105del	XP_011516858.1:n.3607-106_3607-105del
XM_011518557.1:c.3439-106_3439-105del	XP_011516859.1:n.3439-106_3439-105del
XM_011518558.1:c.3439-106_3439-105del	XP_011516860.1:n.3439-106_3439-105del
XM_005251934.3:c.2638-106_2638-105del	XP_005251991.1:n.2638-106_2638-105del
XM_011518556.3:c.3607-106_3607-105del	XP_011516858.1:n.3607-106_3607-105del
XM_011518557.3:c.3439-106_3439-105del	XP_011516859.1:n.3439-106_3439-105del
XM_011518558.3:c.3439-106_3439-105del	XP_011516860.1:n.3439-106_3439-105del
NM_173689.7:c.3634-106_3634-105del MANE Select	NP_775960.4:n.3634-106_3634-105del
NR_104603.2:n.2748-106_2748-105del