Canonical Allele Identifier: CA1218066129

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427650_197427657delinsGACTCCAA , CM000663.2:g.197427650_197427657delinsGACTCCAA	GRCh38
NC_000001.10:g.197396780_197396787delinsGACTCCAA , CM000663.1:g.197396780_197396787delinsGACTCCAA	GRCh37
NC_000001.9:g.195663403_195663410delinsGACTCCAA	NCBI36
NG_008483.1:g.164373_164380delinsGACTCCAA
NG_008483.2:g.231189_231196delinsGACTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2325_2332delinsGACTCCAA MANE Select	ENSP00000356370.3:p.Leu775=
ENST00000638467.1:c.2325_2332delinsGACTCCAA	ENSP00000491102.1:p.Leu775=
ENST00000681519.1:c.1206_1213delinsGACTCCAA	ENSP00000505267.1:p.Leu402=
ENST00000367397.1:c.468_475delinsGACTCCAA	ENSP00000356367.1:p.Leu156=
ENST00000367399.6:c.1989_1996delinsGACTCCAA	ENSP00000356369.2:p.Leu663=
ENST00000367400.7:c.2325_2332delinsGACTCCAA	ENSP00000356370.3:p.Leu775=
ENST00000480086.2:n.226_233delinsGACTCCAA
ENST00000484075.5:c.2325_2332delinsGACTCCAA	ENSP00000433932.1:p.Leu775=
ENST00000535699.5:c.2118_2125delinsGACTCCAA	ENSP00000438786.1:p.Leu706=
ENST00000538660.5:c.2128+5694_2128+5701delinsGACTCCAA	ENSP00000438091.1:n.2128+5694_2128+5701delinsGACTCCAA
NM_001193640.1:c.1989_1996delinsGACTCCAA	NP_001180569.1:p.Leu663=
NM_001257965.1:c.2118_2125delinsGACTCCAA	NP_001244894.1:p.Leu706=
NM_001257966.1:c.2128+5694_2128+5701delinsGACTCCAA	NP_001244895.1:n.2128+5694_2128+5701delinsGACTCCAA
NM_201253.2:c.2325_2332delinsGACTCCAA	NP_957705.1:p.Leu775=
NR_047563.1:n.2326_2333delinsGACTCCAA
NR_047564.1:n.2534_2541delinsGACTCCAA
XM_011509365.1:c.2325_2332delinsGACTCCAA	XP_011507667.1:p.Leu775=
XM_011509366.1:c.2325_2332delinsGACTCCAA	XP_011507668.1:p.Leu775=
XM_011509367.1:c.2325_2332delinsGACTCCAA	XP_011507669.1:p.Leu775=
XM_011509368.1:c.1743_1750delinsGACTCCAA	XP_011507670.1:p.Leu581=
XM_011509369.1:c.768_775delinsGACTCCAA	XP_011507671.1:p.Leu256=
XM_011509365.2:c.2325_2332delinsGACTCCAA	XP_011507667.1:p.Leu775=
XM_011509369.2:c.768_775delinsGACTCCAA	XP_011507671.1:p.Leu256=
XM_017000851.1:c.1482_1489delinsGACTCCAA	XP_016856340.1:p.Leu494=
XM_017000852.1:c.2325_2332delinsGACTCCAA	XP_016856341.1:p.Leu775=
NM_201253.3:c.2325_2332delinsGACTCCAA MANE Select	NP_957705.1:p.Leu775=
NM_001193640.2:c.1989_1996delinsGACTCCAA	NP_001180569.1:p.Leu663=
NM_001257965.2:c.2118_2125delinsGACTCCAA	NP_001244894.1:p.Leu706=
NR_047563.2:n.2278_2285delinsGACTCCAA
NR_047564.2:n.2486_2493delinsGACTCCAA
NM_001257966.2:c.2128+5694_2128+5701delinsGACTCCAA	NP_001244895.1:n.2128+5694_2128+5701delinsGACTCCAA