Canonical Allele Identifier: CA2740090449

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2954108
• ClinVar RCV Id: RCV003813331

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421610del , CM000663.2:g.197421610del	GRCh38
NC_000001.10:g.197390740del , CM000663.1:g.197390740del	GRCh37
NC_000001.9:g.195657363del	NCBI36
NG_008483.1:g.158333del
NG_008483.2:g.225149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1782del MANE Select	ENSP00000356370.3:p.Ala595LeufsTer26
ENST00000638467.1:c.1782del	ENSP00000491102.1:p.Ala595LeufsTer26
ENST00000681519.1:c.663del	ENSP00000505267.1:p.Ala222LeufsTer26
ENST00000367397.1:c.-76del	ENSP00000356367.1:n.-76del
ENST00000367399.6:c.1446del	ENSP00000356369.2:p.Ala483LeufsTer26
ENST00000367400.7:c.1782del	ENSP00000356370.3:p.Ala595LeufsTer26
ENST00000484075.5:c.1782del	ENSP00000433932.1:p.Ala595LeufsTer26
ENST00000535699.5:c.1575del	ENSP00000438786.1:p.Ala526LeufsTer26
ENST00000538660.5:c.1782del	ENSP00000438091.1:p.Ala595LeufsTer26
NM_001193640.1:c.1446del	NP_001180569.1:p.Ala483LeufsTer26
NM_001257965.1:c.1575del	NP_001244894.1:p.Ala526LeufsTer26
NM_001257966.1:c.1782del	NP_001244895.1:p.Ala595LeufsTer26
NM_201253.2:c.1782del	NP_957705.1:p.Ala595LeufsTer26
NR_047563.1:n.1922+69del
NR_047564.1:n.1991del
XM_011509365.1:c.1782del	XP_011507667.1:p.Ala595LeufsTer26
XM_011509366.1:c.1782del	XP_011507668.1:p.Ala595LeufsTer26
XM_011509367.1:c.1782del	XP_011507669.1:p.Ala595LeufsTer26
XM_011509368.1:c.1200del	XP_011507670.1:p.Ala401LeufsTer26
XM_011509369.1:c.225del	XP_011507671.1:p.Ala76LeufsTer26
XM_011509365.2:c.1782del	XP_011507667.1:p.Ala595LeufsTer26
XM_011509369.2:c.225del	XP_011507671.1:p.Ala76LeufsTer26
XM_017000851.1:c.939del	XP_016856340.1:p.Ala314LeufsTer26
XM_017000852.1:c.1782del	XP_016856341.1:p.Ala595LeufsTer26
NM_201253.3:c.1782del MANE Select	NP_957705.1:p.Ala595LeufsTer26
NM_001193640.2:c.1446del	NP_001180569.1:p.Ala483LeufsTer26
NM_001257965.2:c.1575del	NP_001244894.1:p.Ala526LeufsTer26
NR_047563.2:n.1874+69del
NR_047564.2:n.1943del
NM_001257966.2:c.1782del	NP_001244895.1:p.Ala595LeufsTer26