Canonical Allele Identifier: CA2649669866

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421032-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421033del , CM000663.2:g.197421033del	GRCh38
NC_000001.10:g.197390163del , CM000663.1:g.197390163del	GRCh37
NC_000001.9:g.195656786del	NCBI36
NG_008483.1:g.157756del
NG_008483.2:g.224572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1205del MANE Select	ENSP00000356370.3:p.Ser402PhefsTer?
ENST00000638467.1:c.1205del	ENSP00000491102.1:p.Ser402PhefsTer?
ENST00000681519.1:c.86del	ENSP00000505267.1:p.Ser29PhefsTer?
ENST00000367397.1:c.-653del	ENSP00000356367.1:n.-653del
ENST00000367399.6:c.869del	ENSP00000356369.2:p.Ser290PhefsTer?
ENST00000367400.7:c.1205del	ENSP00000356370.3:p.Ser402PhefsTer?
ENST00000476483.1:n.165del
ENST00000484075.5:c.1205del	ENSP00000433932.1:p.Ser402PhefsTer?
ENST00000535699.5:c.998del	ENSP00000438786.1:p.Ser333PhefsTer?
ENST00000538660.5:c.1205del	ENSP00000438091.1:p.Ser402PhefsTer?
NM_001193640.1:c.869del	NP_001180569.1:p.Ser290PhefsTer?
NM_001257965.1:c.998del	NP_001244894.1:p.Ser333PhefsTer?
NM_001257966.1:c.1205del	NP_001244895.1:p.Ser402PhefsTer?
NM_201253.2:c.1205del	NP_957705.1:p.Ser402PhefsTer?
NR_047563.1:n.1414del
NR_047564.1:n.1414del
XM_011509365.1:c.1205del	XP_011507667.1:p.Ser402PhefsTer?
XM_011509366.1:c.1205del	XP_011507668.1:p.Ser402PhefsTer?
XM_011509367.1:c.1205del	XP_011507669.1:p.Ser402PhefsTer?
XM_011509368.1:c.623del	XP_011507670.1:p.Ser208PhefsTer?
XM_011509369.1:c.-353del	XP_011507671.1:n.-353del
XM_011509365.2:c.1205del	XP_011507667.1:p.Ser402PhefsTer?
XM_011509369.2:c.-353del	XP_011507671.1:n.-353del
XM_017000851.1:c.362del	XP_016856340.1:p.Ser121PhefsTer?
XM_017000852.1:c.1205del	XP_016856341.1:p.Ser402PhefsTer?
NM_201253.3:c.1205del MANE Select	NP_957705.1:p.Ser402PhefsTer?
NM_001193640.2:c.869del	NP_001180569.1:p.Ser290PhefsTer?
NM_001257965.2:c.998del	NP_001244894.1:p.Ser333PhefsTer?
NR_047563.2:n.1366del
NR_047564.2:n.1366del
NM_001257966.2:c.1205del	NP_001244895.1:p.Ser402PhefsTer?