Canonical Allele Identifier: CA1312132

Gene: CRB1

Linked Data

• ClinVar Variation Id: 801599
• ClinVar RCV Id: RCV000986492 ; RCV001042752 ; RCV003455002 ; RCV003455001 ; RCV003222187
• dbSNP Id: rs745348555
• ExAC: 1:197396985 AATGGTGG / A
• gnomAD v2: 1-197396985-AATGGTGG-A
• gnomAD v4: 1-197427855-AATGGTGG-A
• MyVariant Identifiers: chr1:g.197396986_197396992del (hg19) ; chr1:g.197427856_197427862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427858_197427864del , CM000663.2:g.197427858_197427864del	GRCh38
NC_000001.10:g.197396988_197396994del , CM000663.1:g.197396988_197396994del	GRCh37
NC_000001.9:g.195663611_195663617del	NCBI36
NG_008483.1:g.164581_164587del
NG_008483.2:g.231397_231403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2533_2539del MANE Select	ENSP00000356370.3:p.Gly845SerfsTer9
ENST00000638467.1:c.2533_2539del	ENSP00000491102.1:p.Gly845SerfsTer9
ENST00000681519.1:c.1414_1420del	ENSP00000505267.1:p.Gly472SerfsTer9
ENST00000367397.1:c.676_682del	ENSP00000356367.1:p.Gly226SerfsTer9
ENST00000367399.6:c.2197_2203del	ENSP00000356369.2:p.Gly733SerfsTer9
ENST00000367400.7:c.2533_2539del	ENSP00000356370.3:p.Gly845SerfsTer9
ENST00000484075.5:c.2533_2539del	ENSP00000433932.1:p.Gly845SerfsTer9
ENST00000535699.5:c.2326_2332del	ENSP00000438786.1:p.Gly776SerfsTer9
ENST00000538660.5:c.2128+5902_2128+5908del	ENSP00000438091.1:n.2128+5902_2128+5908del
NM_001193640.1:c.2197_2203del	NP_001180569.1:p.Gly733SerfsTer9
NM_001257965.1:c.2326_2332del	NP_001244894.1:p.Gly776SerfsTer9
NM_001257966.1:c.2128+5902_2128+5908del	NP_001244895.1:n.2128+5902_2128+5908del
NM_201253.2:c.2533_2539del	NP_957705.1:p.Gly845SerfsTer9
NR_047563.1:n.2534_2540del
NR_047564.1:n.2742_2748del
XM_011509365.1:c.2533_2539del	XP_011507667.1:p.Gly845SerfsTer9
XM_011509366.1:c.2533_2539del	XP_011507668.1:p.Gly845SerfsTer9
XM_011509367.1:c.2533_2539del	XP_011507669.1:p.Gly845SerfsTer9
XM_011509368.1:c.1951_1957del	XP_011507670.1:p.Gly651SerfsTer9
XM_011509369.1:c.976_982del	XP_011507671.1:p.Gly326SerfsTer9
XM_011509365.2:c.2533_2539del	XP_011507667.1:p.Gly845SerfsTer9
XM_011509369.2:c.976_982del	XP_011507671.1:p.Gly326SerfsTer9
XM_017000851.1:c.1690_1696del	XP_016856340.1:p.Gly564SerfsTer9
XM_017000852.1:c.2533_2539del	XP_016856341.1:p.Gly845SerfsTer9
NM_201253.3:c.2533_2539del MANE Select	NP_957705.1:p.Gly845SerfsTer9
NM_001193640.2:c.2197_2203del	NP_001180569.1:p.Gly733SerfsTer9
NM_001257965.2:c.2326_2332del	NP_001244894.1:p.Gly776SerfsTer9
NR_047563.2:n.2486_2492del
NR_047564.2:n.2694_2700del
NM_001257966.2:c.2128+5902_2128+5908del	NP_001244895.1:n.2128+5902_2128+5908del