Canonical Allele Identifier: CA2691592048

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376904-C-CTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376906_123376907insTTC , CM000671.2:g.123376906_123376907insTTC	GRCh38
NC_000009.11:g.126139185_126139186insTTC , CM000671.1:g.126139185_126139186insTTC	GRCh37
NC_000009.10:g.125179006_125179007insTTC	NCBI36
NG_051311.1:g.27842_27843insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3702_3703insTTC MANE Select	ENSP00000362734.3:p.Leu1234_Leu1235insPhe
ENST00000373631.7:c.3702_3703insTTC	ENSP00000362734.3:p.Leu1234_Leu1235insPhe
ENST00000460253.1:c.2706_2707insTTC	ENSP00000435279.1:p.Leu902_Leu903insPhe
NM_173689.6:c.3702_3703insTTC	NP_775960.4:p.Leu1234_Leu1235insPhe
NR_104603.1:n.2816_2817insTTC
XM_005251934.1:c.2706_2707insTTC	XP_005251991.1:p.Leu902_Leu903insPhe
XM_011518556.1:c.3675_3676insTTC	XP_011516858.1:p.Leu1225_Leu1226insPhe
XM_011518557.1:c.3507_3508insTTC	XP_011516859.1:p.Leu1169_Leu1170insPhe
XM_011518558.1:c.3507_3508insTTC	XP_011516860.1:p.Leu1169_Leu1170insPhe
XM_005251934.3:c.2706_2707insTTC	XP_005251991.1:p.Leu902_Leu903insPhe
XM_011518556.3:c.3675_3676insTTC	XP_011516858.1:p.Leu1225_Leu1226insPhe
XM_011518557.3:c.3507_3508insTTC	XP_011516859.1:p.Leu1169_Leu1170insPhe
XM_011518558.3:c.3507_3508insTTC	XP_011516860.1:p.Leu1169_Leu1170insPhe
NM_173689.7:c.3702_3703insTTC MANE Select	NP_775960.4:p.Leu1234_Leu1235insPhe
NR_104603.2:n.2816_2817insTTC