Canonical Allele Identifier: CA149649

Gene: CRB1

Linked Data

• ClinVar Variation Id: 96659
• ClinVar RCV Id: RCV000082822 ; RCV000505172 ; RCV000615750 ; RCV000986483 ; RCV000798096 ; RCV001075317 ; RCV000598962 ; RCV001353031 ; RCV001250581 ; RCV004528300 ; RCV003324504
• dbSNP Id: rs398124615
• ExAC: 1:197297973 GGATGGAATT / G
• gnomAD v2: 1-197297973-GGATGGAATT-G
• gnomAD v3: 1-197328843-GGATGGAATT-G
• gnomAD v4: 1-197328843-GGATGGAATT-G
• COSMIC: COSM1683817
• MyVariant Identifiers: chr1:g.197297979_197297987del (hg19) ; chr1:g.197297974_197297982del (hg19) ; chr1:g.197297979_197297987delAATTGATGG (hg19) ; chr1:g.197328849_197328857del (hg38) ; chr1:g.197328845_197328853del (hg38) ; chr1:g.197328844_197328852del (hg38)
• PubMed: PMID:17297678 ; PMID:23379534 ; PMID:27258436 ; PMID:28041643 ; PMID:28181551 ; PMID:28819299

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328849_197328857del , CM000663.2:g.197328849_197328857del	GRCh38
NC_000001.10:g.197297979_197297987del , CM000663.1:g.197297979_197297987del	GRCh37
NC_000001.9:g.195564602_195564610del	NCBI36
NG_008483.1:g.65572_65580del
NG_008483.2:g.132388_132396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.498_506del MANE Select	ENSP00000356370.3:p.Ile167_Gly169del
ENST00000638467.1:c.498_506del	ENSP00000491102.1:p.Ile167_Gly169del
ENST00000367399.6:c.498_506del	ENSP00000356369.2:p.Ile167_Gly169del
ENST00000367400.7:c.498_506del	ENSP00000356370.3:p.Ile167_Gly169del
ENST00000475659.1:n.635_643del
ENST00000484075.5:c.498_506del	ENSP00000433932.1:p.Ile167_Gly169del
ENST00000535699.5:c.291_299del	ENSP00000438786.1:p.Ile98_Gly100del
ENST00000538660.5:c.498_506del	ENSP00000438091.1:p.Ile167_Gly169del
NM_001193640.1:c.498_506del	NP_001180569.1:p.Ile167_Gly169del
NM_001257965.1:c.291_299del	NP_001244894.1:p.Ile98_Gly100del
NM_001257966.1:c.498_506del	NP_001244895.1:p.Ile167_Gly169del
NM_201253.2:c.498_506del	NP_957705.1:p.Ile167_Gly169del
NR_047563.1:n.707_715del
NR_047564.1:n.707_715del
XM_011509365.1:c.498_506del	XP_011507667.1:p.Ile167_Gly169del
XM_011509366.1:c.498_506del	XP_011507668.1:p.Ile167_Gly169del
XM_011509367.1:c.498_506del	XP_011507669.1:p.Ile167_Gly169del
XM_011509368.1:c.71-15432_71-15424del	XP_011507670.1:n.71-15432_71-15424del
XM_011509365.2:c.498_506del	XP_011507667.1:p.Ile167_Gly169del
XM_017000851.1:c.-206_-198del	XP_016856340.1:n.-206_-198del
XM_017000852.1:c.498_506del	XP_016856341.1:p.Ile167_Gly169del
NM_201253.3:c.498_506del MANE Select	NP_957705.1:p.Ile167_Gly169del
NM_001193640.2:c.498_506del	NP_001180569.1:p.Ile167_Gly169del
NM_001257965.2:c.291_299del	NP_001244894.1:p.Ile98_Gly100del
NR_047563.2:n.659_667del
NR_047564.2:n.659_667del
NM_001257966.2:c.498_506del	NP_001244895.1:p.Ile167_Gly169del