Canonical Allele Identifier: CA2586967863

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2680979
• ClinVar RCV Id: RCV003475772

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434844_197434845del , CM000663.2:g.197434844_197434845del	GRCh38
NC_000001.10:g.197403974_197403975del , CM000663.1:g.197403974_197403975del	GRCh37
NC_000001.9:g.195670597_195670598del	NCBI36
NG_008483.1:g.171567_171568del
NG_008483.2:g.238383_238384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2981_2982del MANE Select	ENSP00000356370.3:p.Lys994ArgfsTer3
ENST00000638467.1:c.2981_2982del	ENSP00000491102.1:p.Lys994ArgfsTer3
ENST00000681519.1:c.1862_1863del	ENSP00000505267.1:p.Lys621ArgfsTer3
ENST00000367397.1:c.1124_1125del	ENSP00000356367.1:p.Lys375ArgfsTer3
ENST00000367399.6:c.2645_2646del	ENSP00000356369.2:p.Lys882ArgfsTer3
ENST00000367400.7:c.2981_2982del	ENSP00000356370.3:p.Lys994ArgfsTer3
ENST00000484075.5:c.2981_2982del	ENSP00000433932.1:p.Lys994ArgfsTer3
ENST00000535699.5:c.2909_2910del	ENSP00000438786.1:p.Lys970ArgfsTer3
ENST00000538660.5:c.2129-756_2129-755del	ENSP00000438091.1:n.2129-756_2129-755del
NM_001193640.1:c.2645_2646del	NP_001180569.1:p.Lys882ArgfsTer3
NM_001257965.1:c.2909_2910del	NP_001244894.1:p.Lys970ArgfsTer3
NM_001257966.1:c.2129-756_2129-755del	NP_001244895.1:n.2129-756_2129-755del
NM_201253.2:c.2981_2982del	NP_957705.1:p.Lys994ArgfsTer3
NR_047563.1:n.2982_2983del
NR_047564.1:n.3190_3191del
XM_011509365.1:c.2981_2982del	XP_011507667.1:p.Lys994ArgfsTer3
XM_011509366.1:c.2981_2982del	XP_011507668.1:p.Lys994ArgfsTer3
XM_011509367.1:c.2981_2982del	XP_011507669.1:p.Lys994ArgfsTer3
XM_011509368.1:c.2399_2400del	XP_011507670.1:p.Lys800ArgfsTer3
XM_011509369.1:c.1424_1425del	XP_011507671.1:p.Lys475ArgfsTer3
XM_011509365.2:c.2981_2982del	XP_011507667.1:p.Lys994ArgfsTer3
XM_011509369.2:c.1424_1425del	XP_011507671.1:p.Lys475ArgfsTer3
XM_017000851.1:c.2138_2139del	XP_016856340.1:p.Lys713ArgfsTer3
XM_017000852.1:c.3116_3117del	XP_016856341.1:p.Lys1039ArgfsTer3
NM_201253.3:c.2981_2982del MANE Select	NP_957705.1:p.Lys994ArgfsTer3
NM_001193640.2:c.2645_2646del	NP_001180569.1:p.Lys882ArgfsTer3
NM_001257965.2:c.2909_2910del	NP_001244894.1:p.Lys970ArgfsTer3
NR_047563.2:n.2934_2935del
NR_047564.2:n.3142_3143del
NM_001257966.2:c.2129-756_2129-755del	NP_001244895.1:n.2129-756_2129-755del