Canonical Allele Identifier: CA646045548

Gene: CRB1

Linked Data

• dbSNP Id: rs1558168940
• gnomAD v3: 1-197478082-C-CA
• gnomAD v4: 1-197478082-C-CA
• COSMIC: COSN23215357

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478089dup , CM000663.2:g.197478089dup	GRCh38
NC_000001.10:g.197447219dup , CM000663.1:g.197447219dup	GRCh37
NC_000001.9:g.195713842dup	NCBI36
NG_008483.1:g.214812dup
NG_008483.2:g.281628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*210dup MANE Select	ENSP00000356370.3:n.*210dup
ENST00000367400.7:c.*210dup	ENSP00000356370.3:n.*210dup
ENST00000448952.1:c.665dup	ENSP00000395407.1:n.665dup
ENST00000484075.5:c.*542dup	ENSP00000433932.1:n.*542dup
ENST00000535699.5:c.*210dup	ENSP00000438786.1:n.*210dup
ENST00000538660.5:c.*210dup	ENSP00000438091.1:n.*210dup
NM_001193640.1:c.*210dup	NP_001180569.1:n.*210dup
NM_001257965.1:c.*210dup	NP_001244894.1:n.*210dup
NM_001257966.1:c.*210dup	NP_001244895.1:n.*210dup
NM_201253.2:c.*210dup	NP_957705.1:n.*210dup
NR_047563.1:n.4432dup
NR_047564.1:n.4882dup
XM_011509366.1:c.*536dup	XP_011507668.1:n.*536dup
XM_011509367.1:c.*410dup	XP_011507669.1:n.*410dup
XM_011509368.1:c.*210dup	XP_011507670.1:n.*210dup
XM_011509369.1:c.*210dup	XP_011507671.1:n.*210dup
XM_011509369.2:c.*210dup	XP_011507671.1:n.*210dup
XM_017000851.1:c.*210dup	XP_016856340.1:n.*210dup
XM_017000852.1:c.*210dup	XP_016856341.1:n.*210dup
NM_201253.3:c.*210dup MANE Select	NP_957705.1:n.*210dup
NM_001193640.2:c.*210dup	NP_001180569.1:n.*210dup
NM_001257965.2:c.*210dup	NP_001244894.1:n.*210dup
NR_047563.2:n.4384dup
NR_047564.2:n.4834dup
NM_001257966.2:c.*210dup	NP_001244895.1:n.*210dup