Canonical Allele Identifier: CA2649669871

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421238-A-ATCTGGCTACACCGGGTCCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421239_197421240insCTGGCTACACCGGGTCCCTGT , CM000663.2:g.197421239_197421240insCTGGCTACACCGGGTCCCTGT	GRCh38
NC_000001.10:g.197390369_197390370insCTGGCTACACCGGGTCCCTGT , CM000663.1:g.197390369_197390370insCTGGCTACACCGGGTCCCTGT	GRCh37
NC_000001.9:g.195656992_195656993insCTGGCTACACCGGGTCCCTGT	NCBI36
NG_008483.1:g.157962_157963insCTGGCTACACCGGGTCCCTGT
NG_008483.2:g.224778_224779insCTGGCTACACCGGGTCCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1411_1412insCTGGCTACACCGGGTCCCTGT MANE Select	ENSP00000356370.3:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
ENST00000638467.1:c.1411_1412insCTGGCTACACCGGGTCCCTGT	ENSP00000491102.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
ENST00000681519.1:c.292_293insCTGGCTACACCGGGTCCCTGT	ENSP00000505267.1:p.Leu97_Cys98insSerGlyTyrThrGlySerLeu
ENST00000367397.1:c.-447_-446insCTGGCTACACCGGGTCCCTGT	ENSP00000356367.1:n.-447_-446insCTGGCTACACCGGGTCCCTGT
ENST00000367399.6:c.1075_1076insCTGGCTACACCGGGTCCCTGT	ENSP00000356369.2:p.Leu358_Cys359insSerGlyTyrThrGlySerLeu
ENST00000367400.7:c.1411_1412insCTGGCTACACCGGGTCCCTGT	ENSP00000356370.3:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
ENST00000476483.1:n.371_372insCTGGCTACACCGGGTCCCTGT
ENST00000484075.5:c.1411_1412insCTGGCTACACCGGGTCCCTGT	ENSP00000433932.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
ENST00000535699.5:c.1204_1205insCTGGCTACACCGGGTCCCTGT	ENSP00000438786.1:p.Leu401_Cys402insSerGlyTyrThrGlySerLeu
ENST00000538660.5:c.1411_1412insCTGGCTACACCGGGTCCCTGT	ENSP00000438091.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
NM_001193640.1:c.1075_1076insCTGGCTACACCGGGTCCCTGT	NP_001180569.1:p.Leu358_Cys359insSerGlyTyrThrGlySerLeu
NM_001257965.1:c.1204_1205insCTGGCTACACCGGGTCCCTGT	NP_001244894.1:p.Leu401_Cys402insSerGlyTyrThrGlySerLeu
NM_001257966.1:c.1411_1412insCTGGCTACACCGGGTCCCTGT	NP_001244895.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
NM_201253.2:c.1411_1412insCTGGCTACACCGGGTCCCTGT	NP_957705.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
NR_047563.1:n.1620_1621insCTGGCTACACCGGGTCCCTGT
NR_047564.1:n.1620_1621insCTGGCTACACCGGGTCCCTGT
XM_011509365.1:c.1411_1412insCTGGCTACACCGGGTCCCTGT	XP_011507667.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
XM_011509366.1:c.1411_1412insCTGGCTACACCGGGTCCCTGT	XP_011507668.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
XM_011509367.1:c.1411_1412insCTGGCTACACCGGGTCCCTGT	XP_011507669.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
XM_011509368.1:c.829_830insCTGGCTACACCGGGTCCCTGT	XP_011507670.1:p.Leu276_Cys277insSerGlyTyrThrGlySerLeu
XM_011509369.1:c.-147_-146insCTGGCTACACCGGGTCCCTGT	XP_011507671.1:n.-147_-146insCTGGCTACACCGGGTCCCTGT
XM_011509365.2:c.1411_1412insCTGGCTACACCGGGTCCCTGT	XP_011507667.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
XM_011509369.2:c.-147_-146insCTGGCTACACCGGGTCCCTGT	XP_011507671.1:n.-147_-146insCTGGCTACACCGGGTCCCTGT
XM_017000851.1:c.568_569insCTGGCTACACCGGGTCCCTGT	XP_016856340.1:p.Leu189_Cys190insSerGlyTyrThrGlySerLeu
XM_017000852.1:c.1411_1412insCTGGCTACACCGGGTCCCTGT	XP_016856341.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
NM_201253.3:c.1411_1412insCTGGCTACACCGGGTCCCTGT MANE Select	NP_957705.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu
NM_001193640.2:c.1075_1076insCTGGCTACACCGGGTCCCTGT	NP_001180569.1:p.Leu358_Cys359insSerGlyTyrThrGlySerLeu
NM_001257965.2:c.1204_1205insCTGGCTACACCGGGTCCCTGT	NP_001244894.1:p.Leu401_Cys402insSerGlyTyrThrGlySerLeu
NR_047563.2:n.1572_1573insCTGGCTACACCGGGTCCCTGT
NR_047564.2:n.1572_1573insCTGGCTACACCGGGTCCCTGT
NM_001257966.2:c.1411_1412insCTGGCTACACCGGGTCCCTGT	NP_001244895.1:p.Leu470_Cys471insSerGlyTyrThrGlySerLeu