Canonical Allele Identifier: CA2691592055

Gene: CRB2

Linked Data

• gnomAD v4: 9-123377002-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377006del , CM000671.2:g.123377006del	GRCh38
NC_000009.11:g.126139285del , CM000671.1:g.126139285del	GRCh37
NC_000009.10:g.125179106del	NCBI36
NG_051311.1:g.27942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3802del MANE Select	ENSP00000362734.3:p.Ala1268ProfsTer?
ENST00000373631.7:c.3802del	ENSP00000362734.3:p.Ala1268ProfsTer?
ENST00000460253.1:c.2806del	ENSP00000435279.1:p.Ala936ProfsTer?
NM_173689.6:c.3802del	NP_775960.4:p.Ala1268ProfsTer?
NR_104603.1:n.2916del
XM_005251934.1:c.2806del	XP_005251991.1:p.Ala936ProfsTer?
XM_011518556.1:c.3775del	XP_011516858.1:p.Ala1259ProfsTer?
XM_011518557.1:c.3607del	XP_011516859.1:p.Ala1203ProfsTer?
XM_011518558.1:c.3607del	XP_011516860.1:p.Ala1203ProfsTer?
XM_005251934.3:c.2806del	XP_005251991.1:p.Ala936ProfsTer?
XM_011518556.3:c.3775del	XP_011516858.1:p.Ala1259ProfsTer?
XM_011518557.3:c.3607del	XP_011516859.1:p.Ala1203ProfsTer?
XM_011518558.3:c.3607del	XP_011516860.1:p.Ala1203ProfsTer?
NM_173689.7:c.3802del MANE Select	NP_775960.4:p.Ala1268ProfsTer?
NR_104603.2:n.2916del