Canonical Allele Identifier: CA2649669872

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421256-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421259dup , CM000663.2:g.197421259dup	GRCh38
NC_000001.10:g.197390389dup , CM000663.1:g.197390389dup	GRCh37
NC_000001.9:g.195657012dup	NCBI36
NG_008483.1:g.157982dup
NG_008483.2:g.224798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1431dup MANE Select	ENSP00000356370.3:p.Ser478ValfsTer4
ENST00000638467.1:c.1431dup	ENSP00000491102.1:p.Ser478ValfsTer4
ENST00000681519.1:c.312dup	ENSP00000505267.1:p.Ser105ValfsTer4
ENST00000367397.1:c.-427dup	ENSP00000356367.1:n.-427dup
ENST00000367399.6:c.1095dup	ENSP00000356369.2:p.Ser366ValfsTer4
ENST00000367400.7:c.1431dup	ENSP00000356370.3:p.Ser478ValfsTer4
ENST00000476483.1:n.391dup
ENST00000484075.5:c.1431dup	ENSP00000433932.1:p.Ser478ValfsTer4
ENST00000535699.5:c.1224dup	ENSP00000438786.1:p.Ser409ValfsTer4
ENST00000538660.5:c.1431dup	ENSP00000438091.1:p.Ser478ValfsTer4
NM_001193640.1:c.1095dup	NP_001180569.1:p.Ser366ValfsTer4
NM_001257965.1:c.1224dup	NP_001244894.1:p.Ser409ValfsTer4
NM_001257966.1:c.1431dup	NP_001244895.1:p.Ser478ValfsTer4
NM_201253.2:c.1431dup	NP_957705.1:p.Ser478ValfsTer4
NR_047563.1:n.1640dup
NR_047564.1:n.1640dup
XM_011509365.1:c.1431dup	XP_011507667.1:p.Ser478ValfsTer4
XM_011509366.1:c.1431dup	XP_011507668.1:p.Ser478ValfsTer4
XM_011509367.1:c.1431dup	XP_011507669.1:p.Ser478ValfsTer4
XM_011509368.1:c.849dup	XP_011507670.1:p.Ser284ValfsTer4
XM_011509369.1:c.-127dup	XP_011507671.1:n.-127dup
XM_011509365.2:c.1431dup	XP_011507667.1:p.Ser478ValfsTer4
XM_011509369.2:c.-127dup	XP_011507671.1:n.-127dup
XM_017000851.1:c.588dup	XP_016856340.1:p.Ser197ValfsTer4
XM_017000852.1:c.1431dup	XP_016856341.1:p.Ser478ValfsTer4
NM_201253.3:c.1431dup MANE Select	NP_957705.1:p.Ser478ValfsTer4
NM_001193640.2:c.1095dup	NP_001180569.1:p.Ser366ValfsTer4
NM_001257965.2:c.1224dup	NP_001244894.1:p.Ser409ValfsTer4
NR_047563.2:n.1592dup
NR_047564.2:n.1592dup
NM_001257966.2:c.1431dup	NP_001244895.1:p.Ser478ValfsTer4