Canonical Allele Identifier: CA1218063215

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2186416
• ClinVar RCV Id: RCV002623262
• dbSNP Id: rs1664329331

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421641del , CM000663.2:g.197421641del	GRCh38
NC_000001.10:g.197390771del , CM000663.1:g.197390771del	GRCh37
NC_000001.9:g.195657394del	NCBI36
NG_008483.1:g.158364del
NG_008483.2:g.225180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1813del MANE Select	ENSP00000356370.3:p.Ile605TyrfsTer16
ENST00000638467.1:c.1813del	ENSP00000491102.1:p.Ile605TyrfsTer16
ENST00000681519.1:c.694del	ENSP00000505267.1:p.Ile232TyrfsTer16
ENST00000367397.1:c.-45del	ENSP00000356367.1:n.-45del
ENST00000367399.6:c.1477del	ENSP00000356369.2:p.Ile493TyrfsTer16
ENST00000367400.7:c.1813del	ENSP00000356370.3:p.Ile605TyrfsTer16
ENST00000484075.5:c.1813del	ENSP00000433932.1:p.Ile605TyrfsTer16
ENST00000535699.5:c.1606del	ENSP00000438786.1:p.Ile536TyrfsTer16
ENST00000538660.5:c.1813del	ENSP00000438091.1:p.Ile605TyrfsTer16
NM_001193640.1:c.1477del	NP_001180569.1:p.Ile493TyrfsTer16
NM_001257965.1:c.1606del	NP_001244894.1:p.Ile536TyrfsTer16
NM_001257966.1:c.1813del	NP_001244895.1:p.Ile605TyrfsTer16
NM_201253.2:c.1813del	NP_957705.1:p.Ile605TyrfsTer16
NR_047563.1:n.1922+100del
NR_047564.1:n.2022del
XM_011509365.1:c.1813del	XP_011507667.1:p.Ile605TyrfsTer16
XM_011509366.1:c.1813del	XP_011507668.1:p.Ile605TyrfsTer16
XM_011509367.1:c.1813del	XP_011507669.1:p.Ile605TyrfsTer16
XM_011509368.1:c.1231del	XP_011507670.1:p.Ile411TyrfsTer16
XM_011509369.1:c.256del	XP_011507671.1:p.Ile86TyrfsTer16
XM_011509365.2:c.1813del	XP_011507667.1:p.Ile605TyrfsTer16
XM_011509369.2:c.256del	XP_011507671.1:p.Ile86TyrfsTer16
XM_017000851.1:c.970del	XP_016856340.1:p.Ile324TyrfsTer16
XM_017000852.1:c.1813del	XP_016856341.1:p.Ile605TyrfsTer16
NM_201253.3:c.1813del MANE Select	NP_957705.1:p.Ile605TyrfsTer16
NM_001193640.2:c.1477del	NP_001180569.1:p.Ile493TyrfsTer16
NM_001257965.2:c.1606del	NP_001244894.1:p.Ile536TyrfsTer16
NR_047563.2:n.1874+100del
NR_047564.2:n.1974del
NM_001257966.2:c.1813del	NP_001244895.1:p.Ile605TyrfsTer16