Canonical Allele Identifier: CA2695199944

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2680992
• ClinVar RCV Id: RCV003475785

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421461delinsAA , CM000663.2:g.197421461delinsAA	GRCh38
NC_000001.10:g.197390591delinsAA , CM000663.1:g.197390591delinsAA	GRCh37
NC_000001.9:g.195657214delinsAA	NCBI36
NG_008483.1:g.158184delinsAA
NG_008483.2:g.225000delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1633delinsAA MANE Select	ENSP00000356370.3:p.Ser545AsnfsTer6
ENST00000638467.1:c.1633delinsAA	ENSP00000491102.1:p.Ser545AsnfsTer6
ENST00000681519.1:c.514delinsAA	ENSP00000505267.1:p.Ser172AsnfsTer6
ENST00000367397.1:c.-225delinsAA	ENSP00000356367.1:n.-225delinsAA
ENST00000367399.6:c.1297delinsAA	ENSP00000356369.2:p.Ser433AsnfsTer6
ENST00000367400.7:c.1633delinsAA	ENSP00000356370.3:p.Ser545AsnfsTer6
ENST00000484075.5:c.1633delinsAA	ENSP00000433932.1:p.Ser545AsnfsTer6
ENST00000535699.5:c.1426delinsAA	ENSP00000438786.1:p.Ser476AsnfsTer6
ENST00000538660.5:c.1633delinsAA	ENSP00000438091.1:p.Ser545AsnfsTer6
NM_001193640.1:c.1297delinsAA	NP_001180569.1:p.Ser433AsnfsTer6
NM_001257965.1:c.1426delinsAA	NP_001244894.1:p.Ser476AsnfsTer6
NM_001257966.1:c.1633delinsAA	NP_001244895.1:p.Ser545AsnfsTer6
NM_201253.2:c.1633delinsAA	NP_957705.1:p.Ser545AsnfsTer6
NR_047563.1:n.1842delinsAA
NR_047564.1:n.1842delinsAA
XM_011509365.1:c.1633delinsAA	XP_011507667.1:p.Ser545AsnfsTer6
XM_011509366.1:c.1633delinsAA	XP_011507668.1:p.Ser545AsnfsTer6
XM_011509367.1:c.1633delinsAA	XP_011507669.1:p.Ser545AsnfsTer6
XM_011509368.1:c.1051delinsAA	XP_011507670.1:p.Ser351AsnfsTer6
XM_011509369.1:c.76delinsAA	XP_011507671.1:p.Ser26AsnfsTer6
XM_011509365.2:c.1633delinsAA	XP_011507667.1:p.Ser545AsnfsTer6
XM_011509369.2:c.76delinsAA	XP_011507671.1:p.Ser26AsnfsTer6
XM_017000851.1:c.790delinsAA	XP_016856340.1:p.Ser264AsnfsTer6
XM_017000852.1:c.1633delinsAA	XP_016856341.1:p.Ser545AsnfsTer6
NM_201253.3:c.1633delinsAA MANE Select	NP_957705.1:p.Ser545AsnfsTer6
NM_001193640.2:c.1297delinsAA	NP_001180569.1:p.Ser433AsnfsTer6
NM_001257965.2:c.1426delinsAA	NP_001244894.1:p.Ser476AsnfsTer6
NR_047563.2:n.1794delinsAA
NR_047564.2:n.1794delinsAA
NM_001257966.2:c.1633delinsAA	NP_001244895.1:p.Ser545AsnfsTer6