Canonical Allele Identifier: CA2649673036

Gene: CRB1

Linked Data

• gnomAD v4: 1-197478020-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478025dup , CM000663.2:g.197478025dup	GRCh38
NC_000001.10:g.197447155dup , CM000663.1:g.197447155dup	GRCh37
NC_000001.9:g.195713778dup	NCBI36
NG_008483.1:g.214748dup
NG_008483.2:g.281564dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*146dup MANE Select	ENSP00000356370.3:n.*146dup
ENST00000367400.7:c.*146dup	ENSP00000356370.3:n.*146dup
ENST00000448952.1:c.601dup	ENSP00000395407.1:n.601dup
ENST00000484075.5:c.*478dup	ENSP00000433932.1:n.*478dup
ENST00000535699.5:c.*146dup	ENSP00000438786.1:n.*146dup
ENST00000538660.5:c.*146dup	ENSP00000438091.1:n.*146dup
NM_001193640.1:c.*146dup	NP_001180569.1:n.*146dup
NM_001257965.1:c.*146dup	NP_001244894.1:n.*146dup
NM_001257966.1:c.*146dup	NP_001244895.1:n.*146dup
NM_201253.2:c.*146dup	NP_957705.1:n.*146dup
NR_047563.1:n.4368dup
NR_047564.1:n.4818dup
XM_011509366.1:c.*472dup	XP_011507668.1:n.*472dup
XM_011509367.1:c.*346dup	XP_011507669.1:n.*346dup
XM_011509368.1:c.*146dup	XP_011507670.1:n.*146dup
XM_011509369.1:c.*146dup	XP_011507671.1:n.*146dup
XM_011509369.2:c.*146dup	XP_011507671.1:n.*146dup
XM_017000851.1:c.*146dup	XP_016856340.1:n.*146dup
XM_017000852.1:c.*146dup	XP_016856341.1:n.*146dup
NM_201253.3:c.*146dup MANE Select	NP_957705.1:n.*146dup
NM_001193640.2:c.*146dup	NP_001180569.1:n.*146dup
NM_001257965.2:c.*146dup	NP_001244894.1:n.*146dup
NR_047563.2:n.4320dup
NR_047564.2:n.4770dup
NM_001257966.2:c.*146dup	NP_001244895.1:n.*146dup