Canonical Allele Identifier: CA2740090300

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2951232
• ClinVar RCV Id: RCV003802494

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427868del , CM000663.2:g.197427868del	GRCh38
NC_000001.10:g.197396998del , CM000663.1:g.197396998del	GRCh37
NC_000001.9:g.195663621del	NCBI36
NG_008483.1:g.164591del
NG_008483.2:g.231407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2543del MANE Select	ENSP00000356370.3:p.Phe848SerfsTer8
ENST00000638467.1:c.2543del	ENSP00000491102.1:p.Phe848SerfsTer8
ENST00000681519.1:c.1424del	ENSP00000505267.1:p.Phe475SerfsTer8
ENST00000367397.1:c.686del	ENSP00000356367.1:p.Phe229SerfsTer8
ENST00000367399.6:c.2207del	ENSP00000356369.2:p.Phe736SerfsTer8
ENST00000367400.7:c.2543del	ENSP00000356370.3:p.Phe848SerfsTer8
ENST00000484075.5:c.2543del	ENSP00000433932.1:p.Phe848SerfsTer8
ENST00000535699.5:c.2336del	ENSP00000438786.1:p.Phe779SerfsTer8
ENST00000538660.5:c.2128+5912del	ENSP00000438091.1:n.2128+5912del
NM_001193640.1:c.2207del	NP_001180569.1:p.Phe736SerfsTer8
NM_001257965.1:c.2336del	NP_001244894.1:p.Phe779SerfsTer8
NM_001257966.1:c.2128+5912del	NP_001244895.1:n.2128+5912del
NM_201253.2:c.2543del	NP_957705.1:p.Phe848SerfsTer8
NR_047563.1:n.2544del
NR_047564.1:n.2752del
XM_011509365.1:c.2543del	XP_011507667.1:p.Phe848SerfsTer8
XM_011509366.1:c.2543del	XP_011507668.1:p.Phe848SerfsTer8
XM_011509367.1:c.2543del	XP_011507669.1:p.Phe848SerfsTer8
XM_011509368.1:c.1961del	XP_011507670.1:p.Phe654SerfsTer8
XM_011509369.1:c.986del	XP_011507671.1:p.Phe329SerfsTer8
XM_011509365.2:c.2543del	XP_011507667.1:p.Phe848SerfsTer8
XM_011509369.2:c.986del	XP_011507671.1:p.Phe329SerfsTer8
XM_017000851.1:c.1700del	XP_016856340.1:p.Phe567SerfsTer8
XM_017000852.1:c.2543del	XP_016856341.1:p.Phe848SerfsTer8
NM_201253.3:c.2543del MANE Select	NP_957705.1:p.Phe848SerfsTer8
NM_001193640.2:c.2207del	NP_001180569.1:p.Phe736SerfsTer8
NM_001257965.2:c.2336del	NP_001244894.1:p.Phe779SerfsTer8
NR_047563.2:n.2496del
NR_047564.2:n.2704del
NM_001257966.2:c.2128+5912del	NP_001244895.1:n.2128+5912del