Canonical Allele Identifier: CA2574105496

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421018_197421020del , CM000663.2:g.197421018_197421020del	GRCh38
NC_000001.10:g.197390148_197390150del , CM000663.1:g.197390148_197390150del	GRCh37
NC_000001.9:g.195656771_195656773del	NCBI36
NG_008483.1:g.157741_157743del
NG_008483.2:g.224557_224559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1190_1192del MANE Select	ENSP00000356370.3:p.Asp397del
ENST00000638467.1:c.1190_1192del	ENSP00000491102.1:p.Asp397del
ENST00000681519.1:c.71_73del	ENSP00000505267.1:p.Asp24del
ENST00000367397.1:c.-668_-666del	ENSP00000356367.1:n.-668_-666del
ENST00000367399.6:c.854_856del	ENSP00000356369.2:p.Asp285del
ENST00000367400.7:c.1190_1192del	ENSP00000356370.3:p.Asp397del
ENST00000476483.1:n.150_152del
ENST00000484075.5:c.1190_1192del	ENSP00000433932.1:p.Asp397del
ENST00000535699.5:c.983_985del	ENSP00000438786.1:p.Asp328del
ENST00000538660.5:c.1190_1192del	ENSP00000438091.1:p.Asp397del
NM_001193640.1:c.854_856del	NP_001180569.1:p.Asp285del
NM_001257965.1:c.983_985del	NP_001244894.1:p.Asp328del
NM_001257966.1:c.1190_1192del	NP_001244895.1:p.Asp397del
NM_201253.2:c.1190_1192del	NP_957705.1:p.Asp397del
NR_047563.1:n.1399_1401del
NR_047564.1:n.1399_1401del
XM_011509365.1:c.1190_1192del	XP_011507667.1:p.Asp397del
XM_011509366.1:c.1190_1192del	XP_011507668.1:p.Asp397del
XM_011509367.1:c.1190_1192del	XP_011507669.1:p.Asp397del
XM_011509368.1:c.608_610del	XP_011507670.1:p.Asp203del
XM_011509369.1:c.-368_-366del	XP_011507671.1:n.-368_-366del
XM_011509365.2:c.1190_1192del	XP_011507667.1:p.Asp397del
XM_011509369.2:c.-368_-366del	XP_011507671.1:n.-368_-366del
XM_017000851.1:c.347_349del	XP_016856340.1:p.Asp116del
XM_017000852.1:c.1190_1192del	XP_016856341.1:p.Asp397del
NM_201253.3:c.1190_1192del MANE Select	NP_957705.1:p.Asp397del
NM_001193640.2:c.854_856del	NP_001180569.1:p.Asp285del
NM_001257965.2:c.983_985del	NP_001244894.1:p.Asp328del
NR_047563.2:n.1351_1353del
NR_047564.2:n.1351_1353del
NM_001257966.2:c.1190_1192del	NP_001244895.1:p.Asp397del