Canonical Allele Identifier: CA2649670118

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427748-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427748_197427749insCT , CM000663.2:g.197427748_197427749insCT	GRCh38
NC_000001.10:g.197396878_197396879insCT , CM000663.1:g.197396878_197396879insCT	GRCh37
NC_000001.9:g.195663501_195663502insCT	NCBI36
NG_008483.1:g.164471_164472insCT
NG_008483.2:g.231287_231288insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2423_2424insCT MANE Select	ENSP00000356370.3:p.Gln809PhefsTer7
ENST00000638467.1:c.2423_2424insCT	ENSP00000491102.1:p.Gln809PhefsTer7
ENST00000681519.1:c.1304_1305insCT	ENSP00000505267.1:p.Gln436PhefsTer7
ENST00000367397.1:c.566_567insCT	ENSP00000356367.1:p.Gln190PhefsTer7
ENST00000367399.6:c.2087_2088insCT	ENSP00000356369.2:p.Gln697PhefsTer7
ENST00000367400.7:c.2423_2424insCT	ENSP00000356370.3:p.Gln809PhefsTer7
ENST00000480086.2:n.324_325insCT
ENST00000484075.5:c.2423_2424insCT	ENSP00000433932.1:p.Gln809PhefsTer7
ENST00000535699.5:c.2216_2217insCT	ENSP00000438786.1:p.Gln740PhefsTer7
ENST00000538660.5:c.2128+5792_2128+5793insCT	ENSP00000438091.1:n.2128+5792_2128+5793insCT
NM_001193640.1:c.2087_2088insCT	NP_001180569.1:p.Gln697PhefsTer7
NM_001257965.1:c.2216_2217insCT	NP_001244894.1:p.Gln740PhefsTer7
NM_001257966.1:c.2128+5792_2128+5793insCT	NP_001244895.1:n.2128+5792_2128+5793insCT
NM_201253.2:c.2423_2424insCT	NP_957705.1:p.Gln809PhefsTer7
NR_047563.1:n.2424_2425insCT
NR_047564.1:n.2632_2633insCT
XM_011509365.1:c.2423_2424insCT	XP_011507667.1:p.Gln809PhefsTer7
XM_011509366.1:c.2423_2424insCT	XP_011507668.1:p.Gln809PhefsTer7
XM_011509367.1:c.2423_2424insCT	XP_011507669.1:p.Gln809PhefsTer7
XM_011509368.1:c.1841_1842insCT	XP_011507670.1:p.Gln615PhefsTer7
XM_011509369.1:c.866_867insCT	XP_011507671.1:p.Gln290PhefsTer7
XM_011509365.2:c.2423_2424insCT	XP_011507667.1:p.Gln809PhefsTer7
XM_011509369.2:c.866_867insCT	XP_011507671.1:p.Gln290PhefsTer7
XM_017000851.1:c.1580_1581insCT	XP_016856340.1:p.Gln528PhefsTer7
XM_017000852.1:c.2423_2424insCT	XP_016856341.1:p.Gln809PhefsTer7
NM_201253.3:c.2423_2424insCT MANE Select	NP_957705.1:p.Gln809PhefsTer7
NM_001193640.2:c.2087_2088insCT	NP_001180569.1:p.Gln697PhefsTer7
NM_001257965.2:c.2216_2217insCT	NP_001244894.1:p.Gln740PhefsTer7
NR_047563.2:n.2376_2377insCT
NR_047564.2:n.2584_2585insCT
NM_001257966.2:c.2128+5792_2128+5793insCT	NP_001244895.1:n.2128+5792_2128+5793insCT