Canonical Allele Identifier: CA1218066171

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427688_197427691delinsTTAA , CM000663.2:g.197427688_197427691delinsTTAA	GRCh38
NC_000001.10:g.197396818_197396821delinsTTAA , CM000663.1:g.197396818_197396821delinsTTAA	GRCh37
NC_000001.9:g.195663441_195663444delinsTTAA	NCBI36
NG_008483.1:g.164411_164414delinsTTAA
NG_008483.2:g.231227_231230delinsTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2363_2366delinsTTAA MANE Select	ENSP00000356370.3:p.Leu788=
ENST00000638467.1:c.2363_2366delinsTTAA	ENSP00000491102.1:p.Leu788=
ENST00000681519.1:c.1244_1247delinsTTAA	ENSP00000505267.1:p.Leu415=
ENST00000367397.1:c.506_509delinsTTAA	ENSP00000356367.1:p.Leu169=
ENST00000367399.6:c.2027_2030delinsTTAA	ENSP00000356369.2:p.Leu676=
ENST00000367400.7:c.2363_2366delinsTTAA	ENSP00000356370.3:p.Leu788=
ENST00000480086.2:n.264_267delinsTTAA
ENST00000484075.5:c.2363_2366delinsTTAA	ENSP00000433932.1:p.Leu788=
ENST00000535699.5:c.2156_2159delinsTTAA	ENSP00000438786.1:p.Leu719=
ENST00000538660.5:c.2128+5732_2128+5735delinsTTAA	ENSP00000438091.1:n.2128+5732_2128+5735delinsTTAA
NM_001193640.1:c.2027_2030delinsTTAA	NP_001180569.1:p.Leu676=
NM_001257965.1:c.2156_2159delinsTTAA	NP_001244894.1:p.Leu719=
NM_001257966.1:c.2128+5732_2128+5735delinsTTAA	NP_001244895.1:n.2128+5732_2128+5735delinsTTAA
NM_201253.2:c.2363_2366delinsTTAA	NP_957705.1:p.Leu788=
NR_047563.1:n.2364_2367delinsTTAA
NR_047564.1:n.2572_2575delinsTTAA
XM_011509365.1:c.2363_2366delinsTTAA	XP_011507667.1:p.Leu788=
XM_011509366.1:c.2363_2366delinsTTAA	XP_011507668.1:p.Leu788=
XM_011509367.1:c.2363_2366delinsTTAA	XP_011507669.1:p.Leu788=
XM_011509368.1:c.1781_1784delinsTTAA	XP_011507670.1:p.Leu594=
XM_011509369.1:c.806_809delinsTTAA	XP_011507671.1:p.Leu269=
XM_011509365.2:c.2363_2366delinsTTAA	XP_011507667.1:p.Leu788=
XM_011509369.2:c.806_809delinsTTAA	XP_011507671.1:p.Leu269=
XM_017000851.1:c.1520_1523delinsTTAA	XP_016856340.1:p.Leu507=
XM_017000852.1:c.2363_2366delinsTTAA	XP_016856341.1:p.Leu788=
NM_201253.3:c.2363_2366delinsTTAA MANE Select	NP_957705.1:p.Leu788=
NM_001193640.2:c.2027_2030delinsTTAA	NP_001180569.1:p.Leu676=
NM_001257965.2:c.2156_2159delinsTTAA	NP_001244894.1:p.Leu719=
NR_047563.2:n.2316_2319delinsTTAA
NR_047564.2:n.2524_2527delinsTTAA
NM_001257966.2:c.2128+5732_2128+5735delinsTTAA	NP_001244895.1:n.2128+5732_2128+5735delinsTTAA