Canonical Allele Identifier: CA2691592053

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376994-GAGGTGGCTGGGGCCCGGCTGGAGATGGACAGTGTCCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377000_123377038del , CM000671.2:g.123377000_123377038del	GRCh38
NC_000009.11:g.126139279_126139317del , CM000671.1:g.126139279_126139317del	GRCh37
NC_000009.10:g.125179100_125179138del	NCBI36
NG_051311.1:g.27936_27974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3796_3834del MANE Select	ENSP00000362734.3:p.Ala1266_Val1278del
ENST00000373631.7:c.3796_3834del	ENSP00000362734.3:p.Ala1266_Val1278del
ENST00000460253.1:c.2800_2838del	ENSP00000435279.1:p.Ala934_Val946del
NM_173689.6:c.3796_3834del	NP_775960.4:p.Ala1266_Val1278del
NR_104603.1:n.2910_2948del
XM_005251934.1:c.2800_2838del	XP_005251991.1:p.Ala934_Val946del
XM_011518556.1:c.3769_3807del	XP_011516858.1:p.Ala1257_Val1269del
XM_011518557.1:c.3601_3639del	XP_011516859.1:p.Ala1201_Val1213del
XM_011518558.1:c.3601_3639del	XP_011516860.1:p.Ala1201_Val1213del
XM_005251934.3:c.2800_2838del	XP_005251991.1:p.Ala934_Val946del
XM_011518556.3:c.3769_3807del	XP_011516858.1:p.Ala1257_Val1269del
XM_011518557.3:c.3601_3639del	XP_011516859.1:p.Ala1201_Val1213del
XM_011518558.3:c.3601_3639del	XP_011516860.1:p.Ala1201_Val1213del
NM_173689.7:c.3796_3834del MANE Select	NP_775960.4:p.Ala1266_Val1278del
NR_104603.2:n.2910_2948del