Canonical Allele Identifier: CA2499214382

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1070751
• ClinVar RCV Id: RCV001383015
• dbSNP Id: rs2125499552

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434997del , CM000663.2:g.197434997del	GRCh38
NC_000001.10:g.197404127del , CM000663.1:g.197404127del	GRCh37
NC_000001.9:g.195670750del	NCBI36
NG_008483.1:g.171720del
NG_008483.2:g.238536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3134del MANE Select	ENSP00000356370.3:p.Leu1045ArgfsTer18
ENST00000638467.1:c.3134del	ENSP00000491102.1:p.Leu1045ArgfsTer18
ENST00000681519.1:c.2015del	ENSP00000505267.1:p.Leu672ArgfsTer18
ENST00000367397.1:c.1277del	ENSP00000356367.1:p.Leu426ArgfsTer18
ENST00000367399.6:c.2798del	ENSP00000356369.2:p.Leu933ArgfsTer18
ENST00000367400.7:c.3134del	ENSP00000356370.3:p.Leu1045ArgfsTer18
ENST00000484075.5:c.3134del	ENSP00000433932.1:p.Leu1045ArgfsTer18
ENST00000535699.5:c.3062del	ENSP00000438786.1:p.Leu1021ArgfsTer18
ENST00000538660.5:c.2129-603del	ENSP00000438091.1:n.2129-603del
NM_001193640.1:c.2798del	NP_001180569.1:p.Leu933ArgfsTer18
NM_001257965.1:c.3062del	NP_001244894.1:p.Leu1021ArgfsTer18
NM_001257966.1:c.2129-603del	NP_001244895.1:n.2129-603del
NM_201253.2:c.3134del	NP_957705.1:p.Leu1045ArgfsTer18
NR_047563.1:n.3135del
NR_047564.1:n.3343del
XM_011509365.1:c.3134del	XP_011507667.1:p.Leu1045ArgfsTer18
XM_011509366.1:c.3134del	XP_011507668.1:p.Leu1045ArgfsTer18
XM_011509367.1:c.3134del	XP_011507669.1:p.Leu1045ArgfsTer18
XM_011509368.1:c.2552del	XP_011507670.1:p.Leu851ArgfsTer18
XM_011509369.1:c.1577del	XP_011507671.1:p.Leu526ArgfsTer18
XM_011509365.2:c.3134del	XP_011507667.1:p.Leu1045ArgfsTer18
XM_011509369.2:c.1577del	XP_011507671.1:p.Leu526ArgfsTer18
XM_017000851.1:c.2291del	XP_016856340.1:p.Leu764ArgfsTer18
XM_017000852.1:c.3269del	XP_016856341.1:p.Leu1090ArgfsTer18
NM_201253.3:c.3134del MANE Select	NP_957705.1:p.Leu1045ArgfsTer18
NM_001193640.2:c.2798del	NP_001180569.1:p.Leu933ArgfsTer18
NM_001257965.2:c.3062del	NP_001244894.1:p.Leu1021ArgfsTer18
NR_047563.2:n.3087del
NR_047564.2:n.3295del
NM_001257966.2:c.2129-603del	NP_001244895.1:n.2129-603del