Canonical Allele Identifier: CA590936291

Gene: CRB2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373620_123373635del , CM000671.2:g.123373620_123373635del	GRCh38
NC_000009.11:g.126135899_126135914del , CM000671.1:g.126135899_126135914del	GRCh37
NC_000009.10:g.125175720_125175735del	NCBI36
NG_051311.1:g.24556_24571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3089_3104del MANE Select	ENSP00000362734.3:p.Arg1030LeufsTer?
ENST00000359999.7:c.3089_3104del	ENSP00000353092.3:p.Arg1030LeufsTer?
ENST00000373631.7:c.3089_3104del	ENSP00000362734.3:p.Arg1030LeufsTer?
ENST00000460253.1:c.2093_2108del	ENSP00000435279.1:p.Arg698LeufsTer?
NM_173689.6:c.3089_3104del	NP_775960.4:p.Arg1030LeufsTer?
NR_104603.1:n.2203_2218del
XM_005251934.1:c.2093_2108del	XP_005251991.1:p.Arg698LeufsTer?
XM_011518556.1:c.3062_3077del	XP_011516858.1:p.Arg1021LeufsTer?
XM_011518557.1:c.2894_2909del	XP_011516859.1:p.Arg965LeufsTer?
XM_011518558.1:c.2894_2909del	XP_011516860.1:p.Arg965LeufsTer?
XM_005251934.3:c.2093_2108del	XP_005251991.1:p.Arg698LeufsTer?
XM_011518556.3:c.3062_3077del	XP_011516858.1:p.Arg1021LeufsTer?
XM_011518557.3:c.2894_2909del	XP_011516859.1:p.Arg965LeufsTer?
XM_011518558.3:c.2894_2909del	XP_011516860.1:p.Arg965LeufsTer?
NM_173689.7:c.3089_3104del MANE Select	NP_775960.4:p.Arg1030LeufsTer?
NR_104603.2:n.2203_2218del