Canonical Allele Identifier: CA916082102

Gene: CRB1

Linked Data

• ClinVar Variation Id: 844579
• ClinVar RCV Id: RCV001047466
• dbSNP Id: rs1664317534

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421525del , CM000663.2:g.197421525del	GRCh38
NC_000001.10:g.197390655del , CM000663.1:g.197390655del	GRCh37
NC_000001.9:g.195657278del	NCBI36
NG_008483.1:g.158248del
NG_008483.2:g.225064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1697del MANE Select	ENSP00000356370.3:p.Glu566GlyfsTer7
ENST00000638467.1:c.1697del	ENSP00000491102.1:p.Glu566GlyfsTer7
ENST00000681519.1:c.578del	ENSP00000505267.1:p.Glu193GlyfsTer7
ENST00000367397.1:c.-161del	ENSP00000356367.1:n.-161del
ENST00000367399.6:c.1361del	ENSP00000356369.2:p.Glu454GlyfsTer7
ENST00000367400.7:c.1697del	ENSP00000356370.3:p.Glu566GlyfsTer7
ENST00000484075.5:c.1697del	ENSP00000433932.1:p.Glu566GlyfsTer7
ENST00000535699.5:c.1490del	ENSP00000438786.1:p.Glu497GlyfsTer7
ENST00000538660.5:c.1697del	ENSP00000438091.1:p.Glu566GlyfsTer7
NM_001193640.1:c.1361del	NP_001180569.1:p.Glu454GlyfsTer7
NM_001257965.1:c.1490del	NP_001244894.1:p.Glu497GlyfsTer7
NM_001257966.1:c.1697del	NP_001244895.1:p.Glu566GlyfsTer7
NM_201253.2:c.1697del	NP_957705.1:p.Glu566GlyfsTer7
NR_047563.1:n.1906del
NR_047564.1:n.1906del
XM_011509365.1:c.1697del	XP_011507667.1:p.Glu566GlyfsTer7
XM_011509366.1:c.1697del	XP_011507668.1:p.Glu566GlyfsTer7
XM_011509367.1:c.1697del	XP_011507669.1:p.Glu566GlyfsTer7
XM_011509368.1:c.1115del	XP_011507670.1:p.Glu372GlyfsTer7
XM_011509369.1:c.140del	XP_011507671.1:p.Glu47GlyfsTer7
XM_011509365.2:c.1697del	XP_011507667.1:p.Glu566GlyfsTer7
XM_011509369.2:c.140del	XP_011507671.1:p.Glu47GlyfsTer7
XM_017000851.1:c.854del	XP_016856340.1:p.Glu285GlyfsTer7
XM_017000852.1:c.1697del	XP_016856341.1:p.Glu566GlyfsTer7
NM_201253.3:c.1697del MANE Select	NP_957705.1:p.Glu566GlyfsTer7
NM_001193640.2:c.1361del	NP_001180569.1:p.Glu454GlyfsTer7
NM_001257965.2:c.1490del	NP_001244894.1:p.Glu497GlyfsTer7
NR_047563.2:n.1858del
NR_047564.2:n.1858del
NM_001257966.2:c.1697del	NP_001244895.1:p.Glu566GlyfsTer7