Canonical Allele Identifier: CA1139656489
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973911
ClinVar RCV Id: RCV001250603
dbSNP Id: rs1664651786

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427568del , CM000663.2:g.197427568del GRCh38
NC_000001.10:g.197396698del , CM000663.1:g.197396698del GRCh37
NC_000001.9:g.195663321del NCBI36
NG_008483.1:g.164291del
NG_008483.2:g.231107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2243del MANE Select ENSP00000356370.3:p.Pro748HisfsTer6
ENST00000638467.1:c.2243del ENSP00000491102.1:p.Pro748HisfsTer6
ENST00000681519.1:c.1124del ENSP00000505267.1:p.Pro375HisfsTer6
ENST00000367397.1:c.386del ENSP00000356367.1:p.Pro129HisfsTer6
ENST00000367399.6:c.1907del ENSP00000356369.2:p.Pro636HisfsTer6
ENST00000367400.7:c.2243del ENSP00000356370.3:p.Pro748HisfsTer6
ENST00000480086.2:n.144del
ENST00000484075.5:c.2243del ENSP00000433932.1:p.Pro748HisfsTer6
ENST00000535699.5:c.2036del ENSP00000438786.1:p.Pro679HisfsTer6
ENST00000538660.5:c.2128+5612del ENSP00000438091.1:n.2128+5612del
NM_001193640.1:c.1907del NP_001180569.1:p.Pro636HisfsTer6
NM_001257965.1:c.2036del NP_001244894.1:p.Pro679HisfsTer6
NM_001257966.1:c.2128+5612del NP_001244895.1:n.2128+5612del
NM_201253.2:c.2243del NP_957705.1:p.Pro748HisfsTer6
NR_047563.1:n.2244del
NR_047564.1:n.2452del
XM_011509365.1:c.2243del XP_011507667.1:p.Pro748HisfsTer6
XM_011509366.1:c.2243del XP_011507668.1:p.Pro748HisfsTer6
XM_011509367.1:c.2243del XP_011507669.1:p.Pro748HisfsTer6
XM_011509368.1:c.1661del XP_011507670.1:p.Pro554HisfsTer6
XM_011509369.1:c.686del XP_011507671.1:p.Pro229HisfsTer6
XM_011509365.2:c.2243del XP_011507667.1:p.Pro748HisfsTer6
XM_011509369.2:c.686del XP_011507671.1:p.Pro229HisfsTer6
XM_017000851.1:c.1400del XP_016856340.1:p.Pro467HisfsTer6
XM_017000852.1:c.2243del XP_016856341.1:p.Pro748HisfsTer6
NM_201253.3:c.2243del MANE Select NP_957705.1:p.Pro748HisfsTer6
NM_001193640.2:c.1907del NP_001180569.1:p.Pro636HisfsTer6
NM_001257965.2:c.2036del NP_001244894.1:p.Pro679HisfsTer6
NR_047563.2:n.2196del
NR_047564.2:n.2404del
NM_001257966.2:c.2128+5612del NP_001244895.1:n.2128+5612del