Canonical Allele Identifier: CA2691592052

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376980-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376983del , CM000671.2:g.123376983del	GRCh38
NC_000009.11:g.126139262del , CM000671.1:g.126139262del	GRCh37
NC_000009.10:g.125179083del	NCBI36
NG_051311.1:g.27919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3779del MANE Select	ENSP00000362734.3:p.Pro1260GlnfsTer?
ENST00000373631.7:c.3779del	ENSP00000362734.3:p.Pro1260GlnfsTer?
ENST00000460253.1:c.2783del	ENSP00000435279.1:p.Pro928GlnfsTer?
NM_173689.6:c.3779del	NP_775960.4:p.Pro1260GlnfsTer?
NR_104603.1:n.2893del
XM_005251934.1:c.2783del	XP_005251991.1:p.Pro928GlnfsTer?
XM_011518556.1:c.3752del	XP_011516858.1:p.Pro1251GlnfsTer?
XM_011518557.1:c.3584del	XP_011516859.1:p.Pro1195GlnfsTer?
XM_011518558.1:c.3584del	XP_011516860.1:p.Pro1195GlnfsTer?
XM_005251934.3:c.2783del	XP_005251991.1:p.Pro928GlnfsTer?
XM_011518556.3:c.3752del	XP_011516858.1:p.Pro1251GlnfsTer?
XM_011518557.3:c.3584del	XP_011516859.1:p.Pro1195GlnfsTer?
XM_011518558.3:c.3584del	XP_011516860.1:p.Pro1195GlnfsTer?
NM_173689.7:c.3779del MANE Select	NP_775960.4:p.Pro1260GlnfsTer?
NR_104603.2:n.2893del