Canonical Allele Identifier: CA1139656488

Gene: CRB1

Linked Data

• ClinVar Variation Id: 953654
• ClinVar RCV Id: RCV001225983
• dbSNP Id: rs1664650245

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427554_197427555insTCCATGTTGAAGC , CM000663.2:g.197427554_197427555insTCCATGTTGAAGC	GRCh38
NC_000001.10:g.197396684_197396685insTCCATGTTGAAGC , CM000663.1:g.197396684_197396685insTCCATGTTGAAGC	GRCh37
NC_000001.9:g.195663307_195663308insTCCATGTTGAAGC	NCBI36
NG_008483.1:g.164277_164278insTCCATGTTGAAGC
NG_008483.2:g.231093_231094insTCCATGTTGAAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2229_2230insTCCATGTTGAAGC MANE Select	ENSP00000356370.3:p.Arg744SerfsTer?
ENST00000638467.1:c.2229_2230insTCCATGTTGAAGC	ENSP00000491102.1:p.Arg744SerfsTer?
ENST00000681519.1:c.1110_1111insTCCATGTTGAAGC	ENSP00000505267.1:p.Arg371SerfsTer?
ENST00000367397.1:c.372_373insTCCATGTTGAAGC	ENSP00000356367.1:p.Arg125SerfsTer?
ENST00000367399.6:c.1893_1894insTCCATGTTGAAGC	ENSP00000356369.2:p.Arg632SerfsTer?
ENST00000367400.7:c.2229_2230insTCCATGTTGAAGC	ENSP00000356370.3:p.Arg744SerfsTer?
ENST00000480086.2:n.130_131insTCCATGTTGAAGC
ENST00000484075.5:c.2229_2230insTCCATGTTGAAGC	ENSP00000433932.1:p.Arg744SerfsTer?
ENST00000535699.5:c.2022_2023insTCCATGTTGAAGC	ENSP00000438786.1:p.Arg675SerfsTer?
ENST00000538660.5:c.2128+5598_2128+5599insTCCATGTTGAAGC	ENSP00000438091.1:n.2128+5598_2128+5599in...
NM_001193640.1:c.1893_1894insTCCATGTTGAAGC	NP_001180569.1:p.Arg632SerfsTer?
NM_001257965.1:c.2022_2023insTCCATGTTGAAGC	NP_001244894.1:p.Arg675SerfsTer?
NM_001257966.1:c.2128+5598_2128+5599insTCCATGTTGAAGC	NP_001244895.1:n.2128+5598_2128+5599insTC...
NM_201253.2:c.2229_2230insTCCATGTTGAAGC	NP_957705.1:p.Arg744SerfsTer?
NR_047563.1:n.2230_2231insTCCATGTTGAAGC
NR_047564.1:n.2438_2439insTCCATGTTGAAGC
XM_011509365.1:c.2229_2230insTCCATGTTGAAGC	XP_011507667.1:p.Arg744SerfsTer?
XM_011509366.1:c.2229_2230insTCCATGTTGAAGC	XP_011507668.1:p.Arg744SerfsTer?
XM_011509367.1:c.2229_2230insTCCATGTTGAAGC	XP_011507669.1:p.Arg744SerfsTer?
XM_011509368.1:c.1647_1648insTCCATGTTGAAGC	XP_011507670.1:p.Arg550SerfsTer?
XM_011509369.1:c.672_673insTCCATGTTGAAGC	XP_011507671.1:p.Arg225SerfsTer?
XM_011509365.2:c.2229_2230insTCCATGTTGAAGC	XP_011507667.1:p.Arg744SerfsTer?
XM_011509369.2:c.672_673insTCCATGTTGAAGC	XP_011507671.1:p.Arg225SerfsTer?
XM_017000851.1:c.1386_1387insTCCATGTTGAAGC	XP_016856340.1:p.Arg463SerfsTer?
XM_017000852.1:c.2229_2230insTCCATGTTGAAGC	XP_016856341.1:p.Arg744SerfsTer?
NM_201253.3:c.2229_2230insTCCATGTTGAAGC MANE Select	NP_957705.1:p.Arg744SerfsTer?
NM_001193640.2:c.1893_1894insTCCATGTTGAAGC	NP_001180569.1:p.Arg632SerfsTer?
NM_001257965.2:c.2022_2023insTCCATGTTGAAGC	NP_001244894.1:p.Arg675SerfsTer?
NR_047563.2:n.2182_2183insTCCATGTTGAAGC
NR_047564.2:n.2390_2391insTCCATGTTGAAGC
NM_001257966.2:c.2128+5598_2128+5599insTCCATGTTGAAGC	NP_001244895.1:n.2128+5598_2128+5599insTC...