Canonical Allele Identifier: CA2740090446

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2951913
• ClinVar RCV Id: RCV003812600

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434767dup , CM000663.2:g.197434767dup	GRCh38
NC_000001.10:g.197403897dup , CM000663.1:g.197403897dup	GRCh37
NC_000001.9:g.195670520dup	NCBI36
NG_008483.1:g.171490dup
NG_008483.2:g.238306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2904dup MANE Select	ENSP00000356370.3:p.Ile969TyrfsTer29
ENST00000638467.1:c.2904dup	ENSP00000491102.1:p.Ile969TyrfsTer29
ENST00000681519.1:c.1785dup	ENSP00000505267.1:p.Ile596TyrfsTer29
ENST00000367397.1:c.1047dup	ENSP00000356367.1:p.Ile350TyrfsTer29
ENST00000367399.6:c.2568dup	ENSP00000356369.2:p.Ile857TyrfsTer29
ENST00000367400.7:c.2904dup	ENSP00000356370.3:p.Ile969TyrfsTer29
ENST00000484075.5:c.2904dup	ENSP00000433932.1:p.Ile969TyrfsTer29
ENST00000535699.5:c.2832dup	ENSP00000438786.1:p.Ile945TyrfsTer29
ENST00000538660.5:c.2129-833dup	ENSP00000438091.1:n.2129-833dup
NM_001193640.1:c.2568dup	NP_001180569.1:p.Ile857TyrfsTer29
NM_001257965.1:c.2832dup	NP_001244894.1:p.Ile945TyrfsTer29
NM_001257966.1:c.2129-833dup	NP_001244895.1:n.2129-833dup
NM_201253.2:c.2904dup	NP_957705.1:p.Ile969TyrfsTer29
NR_047563.1:n.2905dup
NR_047564.1:n.3113dup
XM_011509365.1:c.2904dup	XP_011507667.1:p.Ile969TyrfsTer29
XM_011509366.1:c.2904dup	XP_011507668.1:p.Ile969TyrfsTer29
XM_011509367.1:c.2904dup	XP_011507669.1:p.Ile969TyrfsTer29
XM_011509368.1:c.2322dup	XP_011507670.1:p.Ile775TyrfsTer29
XM_011509369.1:c.1347dup	XP_011507671.1:p.Ile450TyrfsTer29
XM_011509365.2:c.2904dup	XP_011507667.1:p.Ile969TyrfsTer29
XM_011509369.2:c.1347dup	XP_011507671.1:p.Ile450TyrfsTer29
XM_017000851.1:c.2061dup	XP_016856340.1:p.Ile688TyrfsTer29
XM_017000852.1:c.3039dup	XP_016856341.1:p.Ile1014TyrfsTer29
NM_201253.3:c.2904dup MANE Select	NP_957705.1:p.Ile969TyrfsTer29
NM_001193640.2:c.2568dup	NP_001180569.1:p.Ile857TyrfsTer29
NM_001257965.2:c.2832dup	NP_001244894.1:p.Ile945TyrfsTer29
NR_047563.2:n.2857dup
NR_047564.2:n.3065dup
NM_001257966.2:c.2129-833dup	NP_001244895.1:n.2129-833dup