Canonical Allele Identifier: CA1312129

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1446299
• ClinVar RCV Id: RCV001985485 ; RCV003475197
• dbSNP Id: rs778419716
• ExAC: 1:197396956 GCCTA / G
• gnomAD v2: 1-197396956-GCCTA-G
• gnomAD v3: 1-197427826-GCCTA-G
• gnomAD v4: 1-197427826-GCCTA-G
• MyVariant Identifiers: chr1:g.197396957_197396960del (hg19) ; chr1:g.197427827_197427830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427830_197427833del , CM000663.2:g.197427830_197427833del	GRCh38
NC_000001.10:g.197396960_197396963del , CM000663.1:g.197396960_197396963del	GRCh37
NC_000001.9:g.195663583_195663586del	NCBI36
NG_008483.1:g.164553_164556del
NG_008483.2:g.231369_231372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2505_2508del MANE Select	ENSP00000356370.3:p.Pro836ThrfsTer19
ENST00000638467.1:c.2505_2508del	ENSP00000491102.1:p.Pro836ThrfsTer19
ENST00000681519.1:c.1386_1389del	ENSP00000505267.1:p.Pro463ThrfsTer19
ENST00000367397.1:c.648_651del	ENSP00000356367.1:p.Pro217ThrfsTer19
ENST00000367399.6:c.2169_2172del	ENSP00000356369.2:p.Pro724ThrfsTer19
ENST00000367400.7:c.2505_2508del	ENSP00000356370.3:p.Pro836ThrfsTer19
ENST00000480086.2:n.406_409del
ENST00000484075.5:c.2505_2508del	ENSP00000433932.1:p.Pro836ThrfsTer19
ENST00000535699.5:c.2298_2301del	ENSP00000438786.1:p.Pro767ThrfsTer19
ENST00000538660.5:c.2128+5874_2128+5877del	ENSP00000438091.1:n.2128+5874_2128+5877de...
NM_001193640.1:c.2169_2172del	NP_001180569.1:p.Pro724ThrfsTer19
NM_001257965.1:c.2298_2301del	NP_001244894.1:p.Pro767ThrfsTer19
NM_001257966.1:c.2128+5874_2128+5877del	NP_001244895.1:n.2128+5874_2128+5877del
NM_201253.2:c.2505_2508del	NP_957705.1:p.Pro836ThrfsTer19
NR_047563.1:n.2506_2509del
NR_047564.1:n.2714_2717del
XM_011509365.1:c.2505_2508del	XP_011507667.1:p.Pro836ThrfsTer19
XM_011509366.1:c.2505_2508del	XP_011507668.1:p.Pro836ThrfsTer19
XM_011509367.1:c.2505_2508del	XP_011507669.1:p.Pro836ThrfsTer19
XM_011509368.1:c.1923_1926del	XP_011507670.1:p.Pro642ThrfsTer19
XM_011509369.1:c.948_951del	XP_011507671.1:p.Pro317ThrfsTer19
XM_011509365.2:c.2505_2508del	XP_011507667.1:p.Pro836ThrfsTer19
XM_011509369.2:c.948_951del	XP_011507671.1:p.Pro317ThrfsTer19
XM_017000851.1:c.1662_1665del	XP_016856340.1:p.Pro555ThrfsTer19
XM_017000852.1:c.2505_2508del	XP_016856341.1:p.Pro836ThrfsTer19
NM_201253.3:c.2505_2508del MANE Select	NP_957705.1:p.Pro836ThrfsTer19
NM_001193640.2:c.2169_2172del	NP_001180569.1:p.Pro724ThrfsTer19
NM_001257965.2:c.2298_2301del	NP_001244894.1:p.Pro767ThrfsTer19
NR_047563.2:n.2458_2461del
NR_047564.2:n.2666_2669del
NM_001257966.2:c.2128+5874_2128+5877del	NP_001244895.1:n.2128+5874_2128+5877del