Canonical Allele Identifier: CA2649673047

Gene: CRB1

Linked Data

• gnomAD v4: 1-197478034-G-GTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478036_197478039dup , CM000663.2:g.197478036_197478039dup	GRCh38
NC_000001.10:g.197447166_197447169dup , CM000663.1:g.197447166_197447169dup	GRCh37
NC_000001.9:g.195713789_195713792dup	NCBI36
NG_008483.1:g.214759_214762dup
NG_008483.2:g.281575_281578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*157_*160dup MANE Select	ENSP00000356370.3:n.*157_*160dup
ENST00000367400.7:c.*157_*160dup	ENSP00000356370.3:n.*157_*160dup
ENST00000448952.1:c.612_615dup	ENSP00000395407.1:n.612_615dup
ENST00000484075.5:c.*489_*492dup	ENSP00000433932.1:n.*489_*492dup
ENST00000535699.5:c.*157_*160dup	ENSP00000438786.1:n.*157_*160dup
ENST00000538660.5:c.*157_*160dup	ENSP00000438091.1:n.*157_*160dup
NM_001193640.1:c.*157_*160dup	NP_001180569.1:n.*157_*160dup
NM_001257965.1:c.*157_*160dup	NP_001244894.1:n.*157_*160dup
NM_001257966.1:c.*157_*160dup	NP_001244895.1:n.*157_*160dup
NM_201253.2:c.*157_*160dup	NP_957705.1:n.*157_*160dup
NR_047563.1:n.4379_4382dup
NR_047564.1:n.4829_4832dup
XM_011509366.1:c.*483_*486dup	XP_011507668.1:n.*483_*486dup
XM_011509367.1:c.*357_*360dup	XP_011507669.1:n.*357_*360dup
XM_011509368.1:c.*157_*160dup	XP_011507670.1:n.*157_*160dup
XM_011509369.1:c.*157_*160dup	XP_011507671.1:n.*157_*160dup
XM_011509369.2:c.*157_*160dup	XP_011507671.1:n.*157_*160dup
XM_017000851.1:c.*157_*160dup	XP_016856340.1:n.*157_*160dup
XM_017000852.1:c.*157_*160dup	XP_016856341.1:n.*157_*160dup
NM_201253.3:c.*157_*160dup MANE Select	NP_957705.1:n.*157_*160dup
NM_001193640.2:c.*157_*160dup	NP_001180569.1:n.*157_*160dup
NM_001257965.2:c.*157_*160dup	NP_001244894.1:n.*157_*160dup
NR_047563.2:n.4331_4334dup
NR_047564.2:n.4781_4784dup
NM_001257966.2:c.*157_*160dup	NP_001244895.1:n.*157_*160dup