Canonical Allele Identifier: CA2649672991

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477944-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477945dup , CM000663.2:g.197477945dup	GRCh38
NC_000001.10:g.197447075dup , CM000663.1:g.197447075dup	GRCh37
NC_000001.9:g.195713698dup	NCBI36
NG_008483.1:g.214668dup
NG_008483.2:g.281484dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*66dup MANE Select	ENSP00000356370.3:n.*66dup
ENST00000367400.7:c.*66dup	ENSP00000356370.3:n.*66dup
ENST00000448952.1:c.521dup	ENSP00000395407.1:n.521dup
ENST00000484075.5:c.*398dup	ENSP00000433932.1:n.*398dup
ENST00000535699.5:c.*66dup	ENSP00000438786.1:n.*66dup
ENST00000538660.5:c.*66dup	ENSP00000438091.1:n.*66dup
NM_001193640.1:c.*66dup	NP_001180569.1:n.*66dup
NM_001257965.1:c.*66dup	NP_001244894.1:n.*66dup
NM_001257966.1:c.*66dup	NP_001244895.1:n.*66dup
NM_201253.2:c.*66dup	NP_957705.1:n.*66dup
NR_047563.1:n.4288dup
NR_047564.1:n.4738dup
XM_011509366.1:c.*392dup	XP_011507668.1:n.*392dup
XM_011509367.1:c.*266dup	XP_011507669.1:n.*266dup
XM_011509368.1:c.*66dup	XP_011507670.1:n.*66dup
XM_011509369.1:c.*66dup	XP_011507671.1:n.*66dup
XM_011509369.2:c.*66dup	XP_011507671.1:n.*66dup
XM_017000851.1:c.*66dup	XP_016856340.1:n.*66dup
XM_017000852.1:c.*66dup	XP_016856341.1:n.*66dup
NM_201253.3:c.*66dup MANE Select	NP_957705.1:n.*66dup
NM_001193640.2:c.*66dup	NP_001180569.1:n.*66dup
NM_001257965.2:c.*66dup	NP_001244894.1:n.*66dup
NR_047563.2:n.4240dup
NR_047564.2:n.4690dup
NM_001257966.2:c.*66dup	NP_001244895.1:n.*66dup