Canonical Allele Identifier: CA2573051457

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1333701
• ClinVar RCV Id: RCV001808917
• dbSNP Id: rs2125303667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328483dup , CM000663.2:g.197328483dup	GRCh38
NC_000001.10:g.197297613dup , CM000663.1:g.197297613dup	GRCh37
NC_000001.9:g.195564236dup	NCBI36
NG_008483.1:g.65206dup
NG_008483.2:g.132022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.132dup MANE Select	ENSP00000356370.3:p.Cys45MetfsTer9
ENST00000638467.1:c.132dup	ENSP00000491102.1:p.Cys45MetfsTer9
ENST00000367399.6:c.132dup	ENSP00000356369.2:p.Cys45MetfsTer9
ENST00000367400.7:c.132dup	ENSP00000356370.3:p.Cys45MetfsTer9
ENST00000475659.1:n.269dup
ENST00000484075.5:c.132dup	ENSP00000433932.1:p.Cys45MetfsTer9
ENST00000535699.5:c.-76dup	ENSP00000438786.1:n.-76dup
ENST00000538660.5:c.132dup	ENSP00000438091.1:p.Cys45MetfsTer9
NM_001193640.1:c.132dup	NP_001180569.1:p.Cys45MetfsTer9
NM_001257965.1:c.-76dup	NP_001244894.1:n.-76dup
NM_001257966.1:c.132dup	NP_001244895.1:p.Cys45MetfsTer9
NM_201253.2:c.132dup	NP_957705.1:p.Cys45MetfsTer9
NR_047563.1:n.341dup
NR_047564.1:n.341dup
XM_011509365.1:c.132dup	XP_011507667.1:p.Cys45MetfsTer9
XM_011509366.1:c.132dup	XP_011507668.1:p.Cys45MetfsTer9
XM_011509367.1:c.132dup	XP_011507669.1:p.Cys45MetfsTer9
XM_011509368.1:c.71-15798dup	XP_011507670.1:n.71-15798dup
XM_011509365.2:c.132dup	XP_011507667.1:p.Cys45MetfsTer9
XM_017000851.1:c.-572dup	XP_016856340.1:n.-572dup
XM_017000852.1:c.132dup	XP_016856341.1:p.Cys45MetfsTer9
NM_201253.3:c.132dup MANE Select	NP_957705.1:p.Cys45MetfsTer9
NM_001193640.2:c.132dup	NP_001180569.1:p.Cys45MetfsTer9
NM_001257965.2:c.-76dup	NP_001244894.1:n.-76dup
NR_047563.2:n.293dup
NR_047564.2:n.293dup
NM_001257966.2:c.132dup	NP_001244895.1:p.Cys45MetfsTer9