Canonical Allele Identifier: CA913189557

Gene: CRB1

Linked Data

• ClinVar Variation Id: 631587
• ClinVar RCV Id: RCV004527781
• dbSNP Id: rs1558137934

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434943del , CM000663.2:g.197434943del	GRCh38
NC_000001.10:g.197404073del , CM000663.1:g.197404073del	GRCh37
NC_000001.9:g.195670696del	NCBI36
NG_008483.1:g.171666del
NG_008483.2:g.238482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3080del MANE Select	ENSP00000356370.3:p.Gln1027ArgfsTer3
ENST00000638467.1:c.3080del	ENSP00000491102.1:p.Gln1027ArgfsTer3
ENST00000681519.1:c.1961del	ENSP00000505267.1:p.Gln654ArgfsTer3
ENST00000367397.1:c.1223del	ENSP00000356367.1:p.Gln408ArgfsTer3
ENST00000367399.6:c.2744del	ENSP00000356369.2:p.Gln915ArgfsTer3
ENST00000367400.7:c.3080del	ENSP00000356370.3:p.Gln1027ArgfsTer3
ENST00000484075.5:c.3080del	ENSP00000433932.1:p.Gln1027ArgfsTer3
ENST00000535699.5:c.3008del	ENSP00000438786.1:p.Gln1003ArgfsTer3
ENST00000538660.5:c.2129-657del	ENSP00000438091.1:n.2129-657del
NM_001193640.1:c.2744del	NP_001180569.1:p.Gln915ArgfsTer3
NM_001257965.1:c.3008del	NP_001244894.1:p.Gln1003ArgfsTer3
NM_001257966.1:c.2129-657del	NP_001244895.1:n.2129-657del
NM_201253.2:c.3080del	NP_957705.1:p.Gln1027ArgfsTer3
NR_047563.1:n.3081del
NR_047564.1:n.3289del
XM_011509365.1:c.3080del	XP_011507667.1:p.Gln1027ArgfsTer3
XM_011509366.1:c.3080del	XP_011507668.1:p.Gln1027ArgfsTer3
XM_011509367.1:c.3080del	XP_011507669.1:p.Gln1027ArgfsTer3
XM_011509368.1:c.2498del	XP_011507670.1:p.Gln833ArgfsTer3
XM_011509369.1:c.1523del	XP_011507671.1:p.Gln508ArgfsTer3
XM_011509365.2:c.3080del	XP_011507667.1:p.Gln1027ArgfsTer3
XM_011509369.2:c.1523del	XP_011507671.1:p.Gln508ArgfsTer3
XM_017000851.1:c.2237del	XP_016856340.1:p.Gln746ArgfsTer3
XM_017000852.1:c.3215del	XP_016856341.1:p.Gln1072ArgfsTer3
NM_201253.3:c.3080del MANE Select	NP_957705.1:p.Gln1027ArgfsTer3
NM_001193640.2:c.2744del	NP_001180569.1:p.Gln915ArgfsTer3
NM_001257965.2:c.3008del	NP_001244894.1:p.Gln1003ArgfsTer3
NR_047563.2:n.3033del
NR_047564.2:n.3241del
NM_001257966.2:c.2129-657del	NP_001244895.1:n.2129-657del