Canonical Allele Identifier: CA2606719373

Gene: CRB1

Linked Data

• gnomAD v3: 1-197434763-GGAATATTACCAGA-G
• gnomAD v4: 1-197434763-GGAATATTACCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434767_197434779del , CM000663.2:g.197434767_197434779del	GRCh38
NC_000001.10:g.197403897_197403909del , CM000663.1:g.197403897_197403909del	GRCh37
NC_000001.9:g.195670520_195670532del	NCBI36
NG_008483.1:g.171490_171502del
NG_008483.2:g.238306_238318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2904_2916del MANE Select	ENSP00000356370.3:p.Ile969SerfsTer15
ENST00000638467.1:c.2904_2916del	ENSP00000491102.1:p.Ile969SerfsTer15
ENST00000681519.1:c.1785_1797del	ENSP00000505267.1:p.Ile596SerfsTer15
ENST00000367397.1:c.1047_1059del	ENSP00000356367.1:p.Ile350SerfsTer15
ENST00000367399.6:c.2568_2580del	ENSP00000356369.2:p.Ile857SerfsTer15
ENST00000367400.7:c.2904_2916del	ENSP00000356370.3:p.Ile969SerfsTer15
ENST00000484075.5:c.2904_2916del	ENSP00000433932.1:p.Ile969SerfsTer15
ENST00000535699.5:c.2832_2844del	ENSP00000438786.1:p.Ile945SerfsTer15
ENST00000538660.5:c.2129-833_2129-821del	ENSP00000438091.1:n.2129-833_2129-821del
NM_001193640.1:c.2568_2580del	NP_001180569.1:p.Ile857SerfsTer15
NM_001257965.1:c.2832_2844del	NP_001244894.1:p.Ile945SerfsTer15
NM_001257966.1:c.2129-833_2129-821del	NP_001244895.1:n.2129-833_2129-821del
NM_201253.2:c.2904_2916del	NP_957705.1:p.Ile969SerfsTer15
NR_047563.1:n.2905_2917del
NR_047564.1:n.3113_3125del
XM_011509365.1:c.2904_2916del	XP_011507667.1:p.Ile969SerfsTer15
XM_011509366.1:c.2904_2916del	XP_011507668.1:p.Ile969SerfsTer15
XM_011509367.1:c.2904_2916del	XP_011507669.1:p.Ile969SerfsTer15
XM_011509368.1:c.2322_2334del	XP_011507670.1:p.Ile775SerfsTer15
XM_011509369.1:c.1347_1359del	XP_011507671.1:p.Ile450SerfsTer15
XM_011509365.2:c.2904_2916del	XP_011507667.1:p.Ile969SerfsTer15
XM_011509369.2:c.1347_1359del	XP_011507671.1:p.Ile450SerfsTer15
XM_017000851.1:c.2061_2073del	XP_016856340.1:p.Ile688SerfsTer15
XM_017000852.1:c.3039_3051del	XP_016856341.1:p.Ile1014SerfsTer15
NM_201253.3:c.2904_2916del MANE Select	NP_957705.1:p.Ile969SerfsTer15
NM_001193640.2:c.2568_2580del	NP_001180569.1:p.Ile857SerfsTer15
NM_001257965.2:c.2832_2844del	NP_001244894.1:p.Ile945SerfsTer15
NR_047563.2:n.2857_2869del
NR_047564.2:n.3065_3077del
NM_001257966.2:c.2129-833_2129-821del	NP_001244895.1:n.2129-833_2129-821del