Canonical Allele Identifier: CA2649670641

Gene: CRB1

Linked Data

• gnomAD v4: 1-197435042-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435045_197435046dup , CM000663.2:g.197435045_197435046dup	GRCh38
NC_000001.10:g.197404175_197404176dup , CM000663.1:g.197404175_197404176dup	GRCh37
NC_000001.9:g.195670798_195670799dup	NCBI36
NG_008483.1:g.171768_171769dup
NG_008483.2:g.238584_238585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3182_3183dup MANE Select	ENSP00000356370.3:p.Val1062LeufsTer2
ENST00000638467.1:c.3182_3183dup	ENSP00000491102.1:p.Val1062LeufsTer2
ENST00000681519.1:c.2063_2064dup	ENSP00000505267.1:p.Val689LeufsTer2
ENST00000367397.1:c.1325_1326dup	ENSP00000356367.1:p.Val443LeufsTer2
ENST00000367399.6:c.2846_2847dup	ENSP00000356369.2:p.Val950LeufsTer2
ENST00000367400.7:c.3182_3183dup	ENSP00000356370.3:p.Val1062LeufsTer2
ENST00000484075.5:c.3182_3183dup	ENSP00000433932.1:p.Val1062LeufsTer2
ENST00000535699.5:c.3110_3111dup	ENSP00000438786.1:p.Val1038LeufsTer2
ENST00000538660.5:c.2129-555_2129-554dup	ENSP00000438091.1:n.2129-555_2129-554dup
NM_001193640.1:c.2846_2847dup	NP_001180569.1:p.Val950LeufsTer2
NM_001257965.1:c.3110_3111dup	NP_001244894.1:p.Val1038LeufsTer2
NM_001257966.1:c.2129-555_2129-554dup	NP_001244895.1:n.2129-555_2129-554dup
NM_201253.2:c.3182_3183dup	NP_957705.1:p.Val1062LeufsTer2
NR_047563.1:n.3183_3184dup
NR_047564.1:n.3391_3392dup
XM_011509365.1:c.3182_3183dup	XP_011507667.1:p.Val1062LeufsTer2
XM_011509366.1:c.3182_3183dup	XP_011507668.1:p.Val1062LeufsTer2
XM_011509367.1:c.3182_3183dup	XP_011507669.1:p.Val1062LeufsTer2
XM_011509368.1:c.2600_2601dup	XP_011507670.1:p.Val868LeufsTer2
XM_011509369.1:c.1625_1626dup	XP_011507671.1:p.Val543LeufsTer2
XM_011509365.2:c.3182_3183dup	XP_011507667.1:p.Val1062LeufsTer2
XM_011509369.2:c.1625_1626dup	XP_011507671.1:p.Val543LeufsTer2
XM_017000851.1:c.2339_2340dup	XP_016856340.1:p.Val781LeufsTer2
XM_017000852.1:c.3317_3318dup	XP_016856341.1:p.Val1107LeufsTer2
NM_201253.3:c.3182_3183dup MANE Select	NP_957705.1:p.Val1062LeufsTer2
NM_001193640.2:c.2846_2847dup	NP_001180569.1:p.Val950LeufsTer2
NM_001257965.2:c.3110_3111dup	NP_001244894.1:p.Val1038LeufsTer2
NR_047563.2:n.3135_3136dup
NR_047564.2:n.3343_3344dup
NM_001257966.2:c.2129-555_2129-554dup	NP_001244895.1:n.2129-555_2129-554dup