Canonical Allele Identifier: CA916082101

Gene: CRB1

Linked Data

• ClinVar Variation Id: 861706
• ClinVar RCV Id: RCV001068280
• dbSNP Id: rs1664289410

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421162_197421568del , CM000663.2:g.197421162_197421568del	GRCh38
NC_000001.10:g.197390292_197390698del , CM000663.1:g.197390292_197390698del	GRCh37
NC_000001.9:g.195656915_195657321del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1334_1740del MANE Select	ENSP00000356370.3:p.Cys445TyrfsTer8
ENST00000638467.1:c.1334_1740del	ENSP00000491102.1:p.Cys445TyrfsTer8
ENST00000681519.1:c.215_621del	ENSP00000505267.1:p.Cys72TyrfsTer8
ENST00000367397.1:c.-524_-118del	ENSP00000356367.1:n.-524_-118del
ENST00000367399.6:c.998_1404del	ENSP00000356369.2:p.Cys333TyrfsTer8
ENST00000367400.7:c.1334_1740del	ENSP00000356370.3:p.Cys445TyrfsTer8
ENST00000484075.5:c.1334_1740del	ENSP00000433932.1:p.Cys445TyrfsTer8
ENST00000535699.5:c.1127_1533del	ENSP00000438786.1:p.Cys376TyrfsTer8
ENST00000538660.5:c.1334_1740del	ENSP00000438091.1:p.Cys445TyrfsTer8
XM_011509365.1:c.1334_1740del	XP_011507667.1:p.Cys445TyrfsTer8
XM_011509366.1:c.1334_1740del	XP_011507668.1:p.Cys445TyrfsTer8
XM_011509367.1:c.1334_1740del	XP_011507669.1:p.Cys445TyrfsTer8
XM_011509368.1:c.752_1158del	XP_011507670.1:p.Cys251TyrfsTer8
XM_011509369.1:c.-224_183del
XM_011509365.2:c.1334_1740del	XP_011507667.1:p.Cys445TyrfsTer8
XM_011509369.2:c.-224_183del
XM_017000851.1:c.491_897del	XP_016856340.1:p.Cys164TyrfsTer8
XM_017000852.1:c.1334_1740del	XP_016856341.1:p.Cys445TyrfsTer8
NM_201253.3:c.1334_1740del MANE Select	NP_957705.1:p.Cys445TyrfsTer8
NM_001193640.2:c.998_1404del	NP_001180569.1:p.Cys333TyrfsTer8
NM_001257965.2:c.1127_1533del	NP_001244894.1:p.Cys376TyrfsTer8
NR_047563.2:n.1495_1874+27del
NR_047564.2:n.1495_1901del
NM_001257966.2:c.1334_1740del	NP_001244895.1:p.Cys445TyrfsTer8