Canonical Allele Identifier: CA1218063018

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421130_197421131delinsAG , CM000663.2:g.197421130_197421131delinsAG	GRCh38
NC_000001.10:g.197390260_197390261delinsAG , CM000663.1:g.197390260_197390261delinsAG	GRCh37
NC_000001.9:g.195656883_195656884delinsAG	NCBI36
NG_008483.1:g.157853_157854delinsAG
NG_008483.2:g.224669_224670delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1302_1303delinsAG MANE Select	ENSP00000356370.3:p.Gly434=
ENST00000638467.1:c.1302_1303delinsAG	ENSP00000491102.1:p.Gly434=
ENST00000681519.1:c.183_184delinsAG	ENSP00000505267.1:p.Gly61=
ENST00000367397.1:c.-556_-555delinsAG	ENSP00000356367.1:n.-556_-555delinsAG
ENST00000367399.6:c.966_967delinsAG	ENSP00000356369.2:p.Gly322=
ENST00000367400.7:c.1302_1303delinsAG	ENSP00000356370.3:p.Gly434=
ENST00000476483.1:n.262_263delinsAG
ENST00000484075.5:c.1302_1303delinsAG	ENSP00000433932.1:p.Gly434=
ENST00000535699.5:c.1095_1096delinsAG	ENSP00000438786.1:p.Gly365=
ENST00000538660.5:c.1302_1303delinsAG	ENSP00000438091.1:p.Gly434=
NM_001193640.1:c.966_967delinsAG	NP_001180569.1:p.Gly322=
NM_001257965.1:c.1095_1096delinsAG	NP_001244894.1:p.Gly365=
NM_001257966.1:c.1302_1303delinsAG	NP_001244895.1:p.Gly434=
NM_201253.2:c.1302_1303delinsAG	NP_957705.1:p.Gly434=
NR_047563.1:n.1511_1512delinsAG
NR_047564.1:n.1511_1512delinsAG
XM_011509365.1:c.1302_1303delinsAG	XP_011507667.1:p.Gly434=
XM_011509366.1:c.1302_1303delinsAG	XP_011507668.1:p.Gly434=
XM_011509367.1:c.1302_1303delinsAG	XP_011507669.1:p.Gly434=
XM_011509368.1:c.720_721delinsAG	XP_011507670.1:p.Gly240=
XM_011509369.1:c.-256_-255delinsAG	XP_011507671.1:n.-256_-255delinsAG
XM_011509365.2:c.1302_1303delinsAG	XP_011507667.1:p.Gly434=
XM_011509369.2:c.-256_-255delinsAG	XP_011507671.1:n.-256_-255delinsAG
XM_017000851.1:c.459_460delinsAG	XP_016856340.1:p.Gly153=
XM_017000852.1:c.1302_1303delinsAG	XP_016856341.1:p.Gly434=
NM_201253.3:c.1302_1303delinsAG MANE Select	NP_957705.1:p.Gly434=
NM_001193640.2:c.966_967delinsAG	NP_001180569.1:p.Gly322=
NM_001257965.2:c.1095_1096delinsAG	NP_001244894.1:p.Gly365=
NR_047563.2:n.1463_1464delinsAG
NR_047564.2:n.1463_1464delinsAG
NM_001257966.2:c.1302_1303delinsAG	NP_001244895.1:p.Gly434=