Canonical Allele Identifier: CA1218063092

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421344_197421351delinsTCAGTTTG , CM000663.2:g.197421344_197421351delinsTCAGTTTG	GRCh38
NC_000001.10:g.197390474_197390481delinsTCAGTTTG , CM000663.1:g.197390474_197390481delinsTCAGTTTG	GRCh37
NC_000001.9:g.195657097_195657104delinsTCAGTTTG	NCBI36
NG_008483.1:g.158067_158074delinsTCAGTTTG
NG_008483.2:g.224883_224890delinsTCAGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1516_1523delinsTCAGTTTG MANE Select	ENSP00000356370.3:p.Ser506=
ENST00000638467.1:c.1516_1523delinsTCAGTTTG	ENSP00000491102.1:p.Ser506=
ENST00000681519.1:c.397_404delinsTCAGTTTG	ENSP00000505267.1:p.Ser133=
ENST00000367397.1:c.-342_-335delinsTCAGTTTG	ENSP00000356367.1:n.-342_-335delinsTCAGTTTG
ENST00000367399.6:c.1180_1187delinsTCAGTTTG	ENSP00000356369.2:p.Ser394=
ENST00000367400.7:c.1516_1523delinsTCAGTTTG	ENSP00000356370.3:p.Ser506=
ENST00000476483.1:n.476_483delinsTCAGTTTG
ENST00000484075.5:c.1516_1523delinsTCAGTTTG	ENSP00000433932.1:p.Ser506=
ENST00000535699.5:c.1309_1316delinsTCAGTTTG	ENSP00000438786.1:p.Ser437=
ENST00000538660.5:c.1516_1523delinsTCAGTTTG	ENSP00000438091.1:p.Ser506=
NM_001193640.1:c.1180_1187delinsTCAGTTTG	NP_001180569.1:p.Ser394=
NM_001257965.1:c.1309_1316delinsTCAGTTTG	NP_001244894.1:p.Ser437=
NM_001257966.1:c.1516_1523delinsTCAGTTTG	NP_001244895.1:p.Ser506=
NM_201253.2:c.1516_1523delinsTCAGTTTG	NP_957705.1:p.Ser506=
NR_047563.1:n.1725_1732delinsTCAGTTTG
NR_047564.1:n.1725_1732delinsTCAGTTTG
XM_011509365.1:c.1516_1523delinsTCAGTTTG	XP_011507667.1:p.Ser506=
XM_011509366.1:c.1516_1523delinsTCAGTTTG	XP_011507668.1:p.Ser506=
XM_011509367.1:c.1516_1523delinsTCAGTTTG	XP_011507669.1:p.Ser506=
XM_011509368.1:c.934_941delinsTCAGTTTG	XP_011507670.1:p.Ser312=
XM_011509369.1:c.-42_-35delinsTCAGTTTG	XP_011507671.1:n.-42_-35delinsTCAGTTTG
XM_011509365.2:c.1516_1523delinsTCAGTTTG	XP_011507667.1:p.Ser506=
XM_011509369.2:c.-42_-35delinsTCAGTTTG	XP_011507671.1:n.-42_-35delinsTCAGTTTG
XM_017000851.1:c.673_680delinsTCAGTTTG	XP_016856340.1:p.Ser225=
XM_017000852.1:c.1516_1523delinsTCAGTTTG	XP_016856341.1:p.Ser506=
NM_201253.3:c.1516_1523delinsTCAGTTTG MANE Select	NP_957705.1:p.Ser506=
NM_001193640.2:c.1180_1187delinsTCAGTTTG	NP_001180569.1:p.Ser394=
NM_001257965.2:c.1309_1316delinsTCAGTTTG	NP_001244894.1:p.Ser437=
NR_047563.2:n.1677_1684delinsTCAGTTTG
NR_047564.2:n.1677_1684delinsTCAGTTTG
NM_001257966.2:c.1516_1523delinsTCAGTTTG	NP_001244895.1:p.Ser506=