Canonical Allele Identifier: CA2695199947

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2680988
• ClinVar RCV Id: RCV003475781

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427895_197427899del , CM000663.2:g.197427895_197427899del	GRCh38
NC_000001.10:g.197397025_197397029del , CM000663.1:g.197397025_197397029del	GRCh37
NC_000001.9:g.195663648_195663652del	NCBI36
NG_008483.1:g.164618_164622del
NG_008483.2:g.231434_231438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2570_2574del MANE Select	ENSP00000356370.3:p.Leu857GlnfsTer?
ENST00000638467.1:c.2570_2574del	ENSP00000491102.1:p.Leu857GlnfsTer?
ENST00000681519.1:c.1451_1455del	ENSP00000505267.1:p.Leu484GlnfsTer?
ENST00000367397.1:c.713_717del	ENSP00000356367.1:p.Leu238GlnfsTer?
ENST00000367399.6:c.2234_2238del	ENSP00000356369.2:p.Leu745GlnfsTer?
ENST00000367400.7:c.2570_2574del	ENSP00000356370.3:p.Leu857GlnfsTer?
ENST00000484075.5:c.2570_2574del	ENSP00000433932.1:p.Leu857GlnfsTer?
ENST00000535699.5:c.2363_2367del	ENSP00000438786.1:p.Leu788GlnfsTer?
ENST00000538660.5:c.2128+5939_2128+5943del	ENSP00000438091.1:n.2128+5939_2128+5943del
NM_001193640.1:c.2234_2238del	NP_001180569.1:p.Leu745GlnfsTer?
NM_001257965.1:c.2363_2367del	NP_001244894.1:p.Leu788GlnfsTer?
NM_001257966.1:c.2128+5939_2128+5943del	NP_001244895.1:n.2128+5939_2128+5943del
NM_201253.2:c.2570_2574del	NP_957705.1:p.Leu857GlnfsTer?
NR_047563.1:n.2571_2575del
NR_047564.1:n.2779_2783del
XM_011509365.1:c.2570_2574del	XP_011507667.1:p.Leu857GlnfsTer?
XM_011509366.1:c.2570_2574del	XP_011507668.1:p.Leu857GlnfsTer?
XM_011509367.1:c.2570_2574del	XP_011507669.1:p.Leu857GlnfsTer?
XM_011509368.1:c.1988_1992del	XP_011507670.1:p.Leu663GlnfsTer?
XM_011509369.1:c.1013_1017del	XP_011507671.1:p.Leu338GlnfsTer?
XM_011509365.2:c.2570_2574del	XP_011507667.1:p.Leu857GlnfsTer?
XM_011509369.2:c.1013_1017del	XP_011507671.1:p.Leu338GlnfsTer?
XM_017000851.1:c.1727_1731del	XP_016856340.1:p.Leu576GlnfsTer?
XM_017000852.1:c.2570_2574del	XP_016856341.1:p.Leu857GlnfsTer?
NM_201253.3:c.2570_2574del MANE Select	NP_957705.1:p.Leu857GlnfsTer?
NM_001193640.2:c.2234_2238del	NP_001180569.1:p.Leu745GlnfsTer?
NM_001257965.2:c.2363_2367del	NP_001244894.1:p.Leu788GlnfsTer?
NR_047563.2:n.2523_2527del
NR_047564.2:n.2731_2735del
NM_001257966.2:c.2128+5939_2128+5943del	NP_001244895.1:n.2128+5939_2128+5943del