Canonical Allele Identifier: CA1218063282

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421805_197421814delinsGTCTGGCTCA , CM000663.2:g.197421805_197421814delinsGTCTGGCTCA	GRCh38
NC_000001.10:g.197390935_197390944delinsGTCTGGCTCA , CM000663.1:g.197390935_197390944delinsGTCTGGCTCA	GRCh37
NC_000001.9:g.195657558_195657567delinsGTCTGGCTCA	NCBI36
NG_008483.1:g.158528_158537delinsGTCTGGCTCA
NG_008483.2:g.225344_225353delinsGTCTGGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1977_1986delinsGTCTGGCTCA MANE Select	ENSP00000356370.3:p.Ser659=
ENST00000638467.1:c.1977_1986delinsGTCTGGCTCA	ENSP00000491102.1:p.Ser659=
ENST00000681519.1:c.858_867delinsGTCTGGCTCA	ENSP00000505267.1:p.Ser286=
ENST00000367397.1:c.120_129delinsGTCTGGCTCA	ENSP00000356367.1:p.Ser40=
ENST00000367399.6:c.1641_1650delinsGTCTGGCTCA	ENSP00000356369.2:p.Ser547=
ENST00000367400.7:c.1977_1986delinsGTCTGGCTCA	ENSP00000356370.3:p.Ser659=
ENST00000484075.5:c.1977_1986delinsGTCTGGCTCA	ENSP00000433932.1:p.Ser659=
ENST00000535699.5:c.1770_1779delinsGTCTGGCTCA	ENSP00000438786.1:p.Ser590=
ENST00000538660.5:c.1977_1986delinsGTCTGGCTCA	ENSP00000438091.1:p.Ser659=
NM_001193640.1:c.1641_1650delinsGTCTGGCTCA	NP_001180569.1:p.Ser547=
NM_001257965.1:c.1770_1779delinsGTCTGGCTCA	NP_001244894.1:p.Ser590=
NM_001257966.1:c.1977_1986delinsGTCTGGCTCA	NP_001244895.1:p.Ser659=
NM_201253.2:c.1977_1986delinsGTCTGGCTCA	NP_957705.1:p.Ser659=
NR_047563.1:n.1978_1987delinsGTCTGGCTCA
NR_047564.1:n.2186_2195delinsGTCTGGCTCA
XM_011509365.1:c.1977_1986delinsGTCTGGCTCA	XP_011507667.1:p.Ser659=
XM_011509366.1:c.1977_1986delinsGTCTGGCTCA	XP_011507668.1:p.Ser659=
XM_011509367.1:c.1977_1986delinsGTCTGGCTCA	XP_011507669.1:p.Ser659=
XM_011509368.1:c.1395_1404delinsGTCTGGCTCA	XP_011507670.1:p.Ser465=
XM_011509369.1:c.420_429delinsGTCTGGCTCA	XP_011507671.1:p.Ser140=
XM_011509365.2:c.1977_1986delinsGTCTGGCTCA	XP_011507667.1:p.Ser659=
XM_011509369.2:c.420_429delinsGTCTGGCTCA	XP_011507671.1:p.Ser140=
XM_017000851.1:c.1134_1143delinsGTCTGGCTCA	XP_016856340.1:p.Ser378=
XM_017000852.1:c.1977_1986delinsGTCTGGCTCA	XP_016856341.1:p.Ser659=
NM_201253.3:c.1977_1986delinsGTCTGGCTCA MANE Select	NP_957705.1:p.Ser659=
NM_001193640.2:c.1641_1650delinsGTCTGGCTCA	NP_001180569.1:p.Ser547=
NM_001257965.2:c.1770_1779delinsGTCTGGCTCA	NP_001244894.1:p.Ser590=
NR_047563.2:n.1930_1939delinsGTCTGGCTCA
NR_047564.2:n.2138_2147delinsGTCTGGCTCA
NM_001257966.2:c.1977_1986delinsGTCTGGCTCA	NP_001244895.1:p.Ser659=