Canonical Allele Identifier: CA2740090448

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2943159
• ClinVar RCV Id: RCV003800277

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434875_197434877delinsTTT , CM000663.2:g.197434875_197434877delinsTTT	GRCh38
NC_000001.10:g.197404005_197404007delinsTTT , CM000663.1:g.197404005_197404007delinsTTT	GRCh37
NC_000001.9:g.195670628_195670630delinsTTT	NCBI36
NG_008483.1:g.171598_171600delinsTTT
NG_008483.2:g.238414_238416delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3012_3014delinsTTT MANE Select	ENSP00000356370.3:p.Gln1004_Asp1005delinsHisPhe
ENST00000638467.1:c.3012_3014delinsTTT	ENSP00000491102.1:p.Gln1004_Asp1005delinsHisPhe
ENST00000681519.1:c.1893_1895delinsTTT	ENSP00000505267.1:p.Gln631_Asp632delinsHisPhe
ENST00000367397.1:c.1155_1157delinsTTT	ENSP00000356367.1:p.Gln385_Asp386delinsHisPhe
ENST00000367399.6:c.2676_2678delinsTTT	ENSP00000356369.2:p.Gln892_Asp893delinsHisPhe
ENST00000367400.7:c.3012_3014delinsTTT	ENSP00000356370.3:p.Gln1004_Asp1005delinsHisPhe
ENST00000484075.5:c.3012_3014delinsTTT	ENSP00000433932.1:p.Gln1004_Asp1005delinsHisPhe
ENST00000535699.5:c.2940_2942delinsTTT	ENSP00000438786.1:p.Gln980_Asp981delinsHisPhe
ENST00000538660.5:c.2129-725_2129-723delinsTTT	ENSP00000438091.1:n.2129-725_2129-723delinsTTT
NM_001193640.1:c.2676_2678delinsTTT	NP_001180569.1:p.Gln892_Asp893delinsHisPhe
NM_001257965.1:c.2940_2942delinsTTT	NP_001244894.1:p.Gln980_Asp981delinsHisPhe
NM_001257966.1:c.2129-725_2129-723delinsTTT	NP_001244895.1:n.2129-725_2129-723delinsTTT
NM_201253.2:c.3012_3014delinsTTT	NP_957705.1:p.Gln1004_Asp1005delinsHisPhe
NR_047563.1:n.3013_3015delinsTTT
NR_047564.1:n.3221_3223delinsTTT
XM_011509365.1:c.3012_3014delinsTTT	XP_011507667.1:p.Gln1004_Asp1005delinsHisPhe
XM_011509366.1:c.3012_3014delinsTTT	XP_011507668.1:p.Gln1004_Asp1005delinsHisPhe
XM_011509367.1:c.3012_3014delinsTTT	XP_011507669.1:p.Gln1004_Asp1005delinsHisPhe
XM_011509368.1:c.2430_2432delinsTTT	XP_011507670.1:p.Gln810_Asp811delinsHisPhe
XM_011509369.1:c.1455_1457delinsTTT	XP_011507671.1:p.Gln485_Asp486delinsHisPhe
XM_011509365.2:c.3012_3014delinsTTT	XP_011507667.1:p.Gln1004_Asp1005delinsHisPhe
XM_011509369.2:c.1455_1457delinsTTT	XP_011507671.1:p.Gln485_Asp486delinsHisPhe
XM_017000851.1:c.2169_2171delinsTTT	XP_016856340.1:p.Gln723_Asp724delinsHisPhe
XM_017000852.1:c.3147_3149delinsTTT	XP_016856341.1:p.Gln1049_Asp1050delinsHisPhe
NM_201253.3:c.3012_3014delinsTTT MANE Select	NP_957705.1:p.Gln1004_Asp1005delinsHisPhe
NM_001193640.2:c.2676_2678delinsTTT	NP_001180569.1:p.Gln892_Asp893delinsHisPhe
NM_001257965.2:c.2940_2942delinsTTT	NP_001244894.1:p.Gln980_Asp981delinsHisPhe
NR_047563.2:n.2965_2967delinsTTT
NR_047564.2:n.3173_3175delinsTTT
NM_001257966.2:c.2129-725_2129-723delinsTTT	NP_001244895.1:n.2129-725_2129-723delinsTTT