Canonical Allele Identifier: CA2573131447

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1454340
• ClinVar RCV Id: RCV001941821
• dbSNP Id: rs2125485135

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427895dup , CM000663.2:g.197427895dup	GRCh38
NC_000001.10:g.197397025dup , CM000663.1:g.197397025dup	GRCh37
NC_000001.9:g.195663648dup	NCBI36
NG_008483.1:g.164618dup
NG_008483.2:g.231434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2570dup MANE Select	ENSP00000356370.3:p.Asn858LysfsTer?
ENST00000638467.1:c.2570dup	ENSP00000491102.1:p.Asn858LysfsTer?
ENST00000681519.1:c.1451dup	ENSP00000505267.1:p.Asn485LysfsTer?
ENST00000367397.1:c.713dup	ENSP00000356367.1:p.Asn239LysfsTer?
ENST00000367399.6:c.2234dup	ENSP00000356369.2:p.Asn746LysfsTer?
ENST00000367400.7:c.2570dup	ENSP00000356370.3:p.Asn858LysfsTer?
ENST00000484075.5:c.2570dup	ENSP00000433932.1:p.Asn858LysfsTer?
ENST00000535699.5:c.2363dup	ENSP00000438786.1:p.Asn789LysfsTer?
ENST00000538660.5:c.2128+5939dup	ENSP00000438091.1:n.2128+5939dup
NM_001193640.1:c.2234dup	NP_001180569.1:p.Asn746LysfsTer?
NM_001257965.1:c.2363dup	NP_001244894.1:p.Asn789LysfsTer?
NM_001257966.1:c.2128+5939dup	NP_001244895.1:n.2128+5939dup
NM_201253.2:c.2570dup	NP_957705.1:p.Asn858LysfsTer?
NR_047563.1:n.2571dup
NR_047564.1:n.2779dup
XM_011509365.1:c.2570dup	XP_011507667.1:p.Asn858LysfsTer?
XM_011509366.1:c.2570dup	XP_011507668.1:p.Asn858LysfsTer?
XM_011509367.1:c.2570dup	XP_011507669.1:p.Asn858LysfsTer?
XM_011509368.1:c.1988dup	XP_011507670.1:p.Asn664LysfsTer?
XM_011509369.1:c.1013dup	XP_011507671.1:p.Asn339LysfsTer?
XM_011509365.2:c.2570dup	XP_011507667.1:p.Asn858LysfsTer?
XM_011509369.2:c.1013dup	XP_011507671.1:p.Asn339LysfsTer?
XM_017000851.1:c.1727dup	XP_016856340.1:p.Asn577LysfsTer?
XM_017000852.1:c.2570dup	XP_016856341.1:p.Asn858LysfsTer?
NM_201253.3:c.2570dup MANE Select	NP_957705.1:p.Asn858LysfsTer?
NM_001193640.2:c.2234dup	NP_001180569.1:p.Asn746LysfsTer?
NM_001257965.2:c.2363dup	NP_001244894.1:p.Asn789LysfsTer?
NR_047563.2:n.2523dup
NR_047564.2:n.2731dup
NM_001257966.2:c.2128+5939dup	NP_001244895.1:n.2128+5939dup