Canonical Allele Identifier: CA2691590230

Gene: CRB2

Linked Data

• gnomAD v4: 9-123373792-AGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373805_123373918del , CM000671.2:g.123373805_123373918del	GRCh38
NC_000009.11:g.126136084_126136197del , CM000671.1:g.126136084_126136197del	GRCh37
NC_000009.10:g.125175905_125176018del	NCBI36
NG_051311.1:g.24741_24854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3274_3387del MANE Select	ENSP00000362734.3:p.Glu1092_Cys1129del
ENST00000359999.7:c.3274_3387del	ENSP00000353092.3:p.Glu1092_Cys1129del
ENST00000373631.7:c.3274_3387del	ENSP00000362734.3:p.Glu1092_Cys1129del
ENST00000460253.1:c.2278_2391del	ENSP00000435279.1:p.Glu760_Cys797del
NM_173689.6:c.3274_3387del	NP_775960.4:p.Glu1092_Cys1129del
NR_104603.1:n.2388_2501del
XM_005251934.1:c.2278_2391del	XP_005251991.1:p.Glu760_Cys797del
XM_011518556.1:c.3247_3360del	XP_011516858.1:p.Glu1083_Cys1120del
XM_011518557.1:c.3079_3192del	XP_011516859.1:p.Glu1027_Cys1064del
XM_011518558.1:c.3079_3192del	XP_011516860.1:p.Glu1027_Cys1064del
XM_005251934.3:c.2278_2391del	XP_005251991.1:p.Glu760_Cys797del
XM_011518556.3:c.3247_3360del	XP_011516858.1:p.Glu1083_Cys1120del
XM_011518557.3:c.3079_3192del	XP_011516859.1:p.Glu1027_Cys1064del
XM_011518558.3:c.3079_3192del	XP_011516860.1:p.Glu1027_Cys1064del
NM_173689.7:c.3274_3387del MANE Select	NP_775960.4:p.Glu1092_Cys1129del
NR_104603.2:n.2388_2501del