Canonical Allele Identifier: CA2649670456

Gene: CRB1

Linked Data

• gnomAD v4: 1-197429370-CAGATAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429371_197429376del , CM000663.2:g.197429371_197429376del	GRCh38
NC_000001.10:g.197398501_197398506del , CM000663.1:g.197398501_197398506del	GRCh37
NC_000001.9:g.195665124_195665129del	NCBI36
NG_008483.1:g.166094_166099del
NG_008483.2:g.232910_232915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2677-78_2677-73del MANE Select	ENSP00000356370.3:n.2677-78_2677-73del
ENST00000638467.1:c.2677-78_2677-73del	ENSP00000491102.1:n.2677-78_2677-73del
ENST00000681519.1:c.1558-78_1558-73del	ENSP00000505267.1:n.1558-78_1558-73del
ENST00000367397.1:c.820-78_820-73del	ENSP00000356367.1:n.820-78_820-73del
ENST00000367399.6:c.2341-78_2341-73del	ENSP00000356369.2:n.2341-78_2341-73del
ENST00000367400.7:c.2677-78_2677-73del	ENSP00000356370.3:n.2677-78_2677-73del
ENST00000484075.5:c.2677-78_2677-73del	ENSP00000433932.1:n.2677-78_2677-73del
ENST00000535699.5:c.2605-78_2605-73del	ENSP00000438786.1:n.2605-78_2605-73del
ENST00000538660.5:c.2129-6229_2129-6224del	ENSP00000438091.1:n.2129-6229_2129-6224del
NM_001193640.1:c.2341-78_2341-73del	NP_001180569.1:n.2341-78_2341-73del
NM_001257965.1:c.2605-78_2605-73del	NP_001244894.1:n.2605-78_2605-73del
NM_001257966.1:c.2129-6229_2129-6224del	NP_001244895.1:n.2129-6229_2129-6224del
NM_201253.2:c.2677-78_2677-73del	NP_957705.1:n.2677-78_2677-73del
NR_047563.1:n.2678-78_2678-73del
NR_047564.1:n.2886-78_2886-73del
XM_011509365.1:c.2677-78_2677-73del	XP_011507667.1:n.2677-78_2677-73del
XM_011509366.1:c.2677-78_2677-73del	XP_011507668.1:n.2677-78_2677-73del
XM_011509367.1:c.2677-78_2677-73del	XP_011507669.1:n.2677-78_2677-73del
XM_011509368.1:c.2095-78_2095-73del	XP_011507670.1:n.2095-78_2095-73del
XM_011509369.1:c.1120-78_1120-73del	XP_011507671.1:n.1120-78_1120-73del
XM_011509365.2:c.2677-78_2677-73del	XP_011507667.1:n.2677-78_2677-73del
XM_011509369.2:c.1120-78_1120-73del	XP_011507671.1:n.1120-78_1120-73del
XM_017000851.1:c.1834-78_1834-73del	XP_016856340.1:n.1834-78_1834-73del
XM_017000852.1:c.2812-78_2812-73del	XP_016856341.1:n.2812-78_2812-73del
NM_201253.3:c.2677-78_2677-73del MANE Select	NP_957705.1:n.2677-78_2677-73del
NM_001193640.2:c.2341-78_2341-73del	NP_001180569.1:n.2341-78_2341-73del
NM_001257965.2:c.2605-78_2605-73del	NP_001244894.1:n.2605-78_2605-73del
NR_047563.2:n.2630-78_2630-73del
NR_047564.2:n.2838-78_2838-73del
NM_001257966.2:c.2129-6229_2129-6224del	NP_001244895.1:n.2129-6229_2129-6224del