Canonical Allele Identifier: CA2649670117

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427643-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427644_197427646del , CM000663.2:g.197427644_197427646del	GRCh38
NC_000001.10:g.197396774_197396776del , CM000663.1:g.197396774_197396776del	GRCh37
NC_000001.9:g.195663397_195663399del	NCBI36
NG_008483.1:g.164367_164369del
NG_008483.2:g.231183_231185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2319_2321del MANE Select	ENSP00000356370.3:p.Met774del
ENST00000638467.1:c.2319_2321del	ENSP00000491102.1:p.Met774del
ENST00000681519.1:c.1200_1202del	ENSP00000505267.1:p.Met401del
ENST00000367397.1:c.462_464del	ENSP00000356367.1:p.Met155del
ENST00000367399.6:c.1983_1985del	ENSP00000356369.2:p.Met662del
ENST00000367400.7:c.2319_2321del	ENSP00000356370.3:p.Met774del
ENST00000480086.2:n.220_222del
ENST00000484075.5:c.2319_2321del	ENSP00000433932.1:p.Met774del
ENST00000535699.5:c.2112_2114del	ENSP00000438786.1:p.Met705del
ENST00000538660.5:c.2128+5688_2128+5690del	ENSP00000438091.1:n.2128+5688_2128+5690del
NM_001193640.1:c.1983_1985del	NP_001180569.1:p.Met662del
NM_001257965.1:c.2112_2114del	NP_001244894.1:p.Met705del
NM_001257966.1:c.2128+5688_2128+5690del	NP_001244895.1:n.2128+5688_2128+5690del
NM_201253.2:c.2319_2321del	NP_957705.1:p.Met774del
NR_047563.1:n.2320_2322del
NR_047564.1:n.2528_2530del
XM_011509365.1:c.2319_2321del	XP_011507667.1:p.Met774del
XM_011509366.1:c.2319_2321del	XP_011507668.1:p.Met774del
XM_011509367.1:c.2319_2321del	XP_011507669.1:p.Met774del
XM_011509368.1:c.1737_1739del	XP_011507670.1:p.Met580del
XM_011509369.1:c.762_764del	XP_011507671.1:p.Met255del
XM_011509365.2:c.2319_2321del	XP_011507667.1:p.Met774del
XM_011509369.2:c.762_764del	XP_011507671.1:p.Met255del
XM_017000851.1:c.1476_1478del	XP_016856340.1:p.Met493del
XM_017000852.1:c.2319_2321del	XP_016856341.1:p.Met774del
NM_201253.3:c.2319_2321del MANE Select	NP_957705.1:p.Met774del
NM_001193640.2:c.1983_1985del	NP_001180569.1:p.Met662del
NM_001257965.2:c.2112_2114del	NP_001244894.1:p.Met705del
NR_047563.2:n.2272_2274del
NR_047564.2:n.2480_2482del
NM_001257966.2:c.2128+5688_2128+5690del	NP_001244895.1:n.2128+5688_2128+5690del