Canonical Allele Identifier: CA2649669873

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421264-T-TGTGTGAAAGTGTGGTTGCGATTTCACACAGGGACCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421272_197421273insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA , CM000663.2:g.197421272_197421273insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	GRCh38
NC_000001.10:g.197390402_197390403insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA , CM000663.1:g.197390402_197390403insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	GRCh37
NC_000001.9:g.195657025_195657026insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NCBI36
NG_008483.1:g.157995_157996insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA
NG_008483.2:g.224811_224812insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA MANE Select	ENSP00000356370.3:p.Ile482SerfsTer12
ENST00000638467.1:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000491102.1:p.Ile482SerfsTer12
ENST00000681519.1:c.325_326insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000505267.1:p.Ile109SerfsTer12
ENST00000367397.1:c.-414_-413insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000356367.1:n.-414_-413insGTGTGGTTG...
ENST00000367399.6:c.1108_1109insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000356369.2:p.Ile370SerfsTer12
ENST00000367400.7:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000356370.3:p.Ile482SerfsTer12
ENST00000476483.1:n.404_405insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA
ENST00000484075.5:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000433932.1:p.Ile482SerfsTer12
ENST00000535699.5:c.1237_1238insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000438786.1:p.Ile413SerfsTer12
ENST00000538660.5:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	ENSP00000438091.1:p.Ile482SerfsTer12
NM_001193640.1:c.1108_1109insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_001180569.1:p.Ile370SerfsTer12
NM_001257965.1:c.1237_1238insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_001244894.1:p.Ile413SerfsTer12
NM_001257966.1:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_001244895.1:p.Ile482SerfsTer12
NM_201253.2:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_957705.1:p.Ile482SerfsTer12
NR_047563.1:n.1653_1654insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA
NR_047564.1:n.1653_1654insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA
XM_011509365.1:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507667.1:p.Ile482SerfsTer12
XM_011509366.1:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507668.1:p.Ile482SerfsTer12
XM_011509367.1:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507669.1:p.Ile482SerfsTer12
XM_011509368.1:c.862_863insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507670.1:p.Ile288SerfsTer12
XM_011509369.1:c.-114_-113insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507671.1:n.-114_-113insGTGTGGTTGCGA...
XM_011509365.2:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507667.1:p.Ile482SerfsTer12
XM_011509369.2:c.-114_-113insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_011507671.1:n.-114_-113insGTGTGGTTGCGA...
XM_017000851.1:c.601_602insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_016856340.1:p.Ile201SerfsTer12
XM_017000852.1:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	XP_016856341.1:p.Ile482SerfsTer12
NM_201253.3:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA MANE Select	NP_957705.1:p.Ile482SerfsTer12
NM_001193640.2:c.1108_1109insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_001180569.1:p.Ile370SerfsTer12
NM_001257965.2:c.1237_1238insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_001244894.1:p.Ile413SerfsTer12
NR_047563.2:n.1605_1606insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA
NR_047564.2:n.1605_1606insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA
NM_001257966.2:c.1444_1445insGTGTGGTTGCGATTTCACACAGGGACCCGGTGTGAAA	NP_001244895.1:p.Ile482SerfsTer12