Canonical Allele Identifier: CA915941947

Gene: CRB1

Linked Data

• ClinVar Variation Id: 801596
• ClinVar RCV Id: RCV000986488
• dbSNP Id: rs1571523319

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421283_197421286dup , CM000663.2:g.197421283_197421286dup	GRCh38
NC_000001.10:g.197390413_197390416dup , CM000663.1:g.197390413_197390416dup	GRCh37
NC_000001.9:g.195657036_195657039dup	NCBI36
NG_008483.1:g.158006_158009dup
NG_008483.2:g.224822_224825dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1455_1458dup MANE Select	ENSP00000356370.3:p.Ser487ThrfsTer4
ENST00000638467.1:c.1455_1458dup	ENSP00000491102.1:p.Ser487ThrfsTer4
ENST00000681519.1:c.336_339dup	ENSP00000505267.1:p.Ser114ThrfsTer4
ENST00000367397.1:c.-403_-400dup	ENSP00000356367.1:n.-403_-400dup
ENST00000367399.6:c.1119_1122dup	ENSP00000356369.2:p.Ser375ThrfsTer4
ENST00000367400.7:c.1455_1458dup	ENSP00000356370.3:p.Ser487ThrfsTer4
ENST00000476483.1:n.415_418dup
ENST00000484075.5:c.1455_1458dup	ENSP00000433932.1:p.Ser487ThrfsTer4
ENST00000535699.5:c.1248_1251dup	ENSP00000438786.1:p.Ser418ThrfsTer4
ENST00000538660.5:c.1455_1458dup	ENSP00000438091.1:p.Ser487ThrfsTer4
NM_001193640.1:c.1119_1122dup	NP_001180569.1:p.Ser375ThrfsTer4
NM_001257965.1:c.1248_1251dup	NP_001244894.1:p.Ser418ThrfsTer4
NM_001257966.1:c.1455_1458dup	NP_001244895.1:p.Ser487ThrfsTer4
NM_201253.2:c.1455_1458dup	NP_957705.1:p.Ser487ThrfsTer4
NR_047563.1:n.1664_1667dup
NR_047564.1:n.1664_1667dup
XM_011509365.1:c.1455_1458dup	XP_011507667.1:p.Ser487ThrfsTer4
XM_011509366.1:c.1455_1458dup	XP_011507668.1:p.Ser487ThrfsTer4
XM_011509367.1:c.1455_1458dup	XP_011507669.1:p.Ser487ThrfsTer4
XM_011509368.1:c.873_876dup	XP_011507670.1:p.Ser293ThrfsTer4
XM_011509369.1:c.-103_-100dup	XP_011507671.1:n.-103_-100dup
XM_011509365.2:c.1455_1458dup	XP_011507667.1:p.Ser487ThrfsTer4
XM_011509369.2:c.-103_-100dup	XP_011507671.1:n.-103_-100dup
XM_017000851.1:c.612_615dup	XP_016856340.1:p.Ser206ThrfsTer4
XM_017000852.1:c.1455_1458dup	XP_016856341.1:p.Ser487ThrfsTer4
NM_201253.3:c.1455_1458dup MANE Select	NP_957705.1:p.Ser487ThrfsTer4
NM_001193640.2:c.1119_1122dup	NP_001180569.1:p.Ser375ThrfsTer4
NM_001257965.2:c.1248_1251dup	NP_001244894.1:p.Ser418ThrfsTer4
NR_047563.2:n.1616_1619dup
NR_047564.2:n.1616_1619dup
NM_001257966.2:c.1455_1458dup	NP_001244895.1:p.Ser487ThrfsTer4