Canonical Allele Identifier: CA645534549

Gene: CRB1

Linked Data

• COSMIC: COSM143679

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427768_197427769delinsAA , CM000663.2:g.197427768_197427769delinsAA	GRCh38
NC_000001.10:g.197396898_197396899delinsAA , CM000663.1:g.197396898_197396899delinsAA	GRCh37
NC_000001.9:g.195663521_195663522delinsAA	NCBI36
NG_008483.1:g.164491_164492delinsAA
NG_008483.2:g.231307_231308delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2443_2444delinsAA MANE Select	ENSP00000356370.3:p.Gly815Lys
ENST00000638467.1:c.2443_2444delinsAA	ENSP00000491102.1:p.Gly815Lys
ENST00000681519.1:c.1324_1325delinsAA	ENSP00000505267.1:p.Gly442Lys
ENST00000367397.1:c.586_587delinsAA	ENSP00000356367.1:p.Gly196Lys
ENST00000367399.6:c.2107_2108delinsAA	ENSP00000356369.2:p.Gly703Lys
ENST00000367400.7:c.2443_2444delinsAA	ENSP00000356370.3:p.Gly815Lys
ENST00000480086.2:n.344_345delinsAA
ENST00000484075.5:c.2443_2444delinsAA	ENSP00000433932.1:p.Gly815Lys
ENST00000535699.5:c.2236_2237delinsAA	ENSP00000438786.1:p.Gly746Lys
ENST00000538660.5:c.2128+5812_2128+5813delinsAA	ENSP00000438091.1:n.2128+5812_2128+5813delinsAA
NM_001193640.1:c.2107_2108delinsAA	NP_001180569.1:p.Gly703Lys
NM_001257965.1:c.2236_2237delinsAA	NP_001244894.1:p.Gly746Lys
NM_001257966.1:c.2128+5812_2128+5813delinsAA	NP_001244895.1:n.2128+5812_2128+5813delinsAA
NM_201253.2:c.2443_2444delinsAA	NP_957705.1:p.Gly815Lys
NR_047563.1:n.2444_2445delinsAA
NR_047564.1:n.2652_2653delinsAA
XM_011509365.1:c.2443_2444delinsAA	XP_011507667.1:p.Gly815Lys
XM_011509366.1:c.2443_2444delinsAA	XP_011507668.1:p.Gly815Lys
XM_011509367.1:c.2443_2444delinsAA	XP_011507669.1:p.Gly815Lys
XM_011509368.1:c.1861_1862delinsAA	XP_011507670.1:p.Gly621Lys
XM_011509369.1:c.886_887delinsAA	XP_011507671.1:p.Gly296Lys
XM_011509365.2:c.2443_2444delinsAA	XP_011507667.1:p.Gly815Lys
XM_011509369.2:c.886_887delinsAA	XP_011507671.1:p.Gly296Lys
XM_017000851.1:c.1600_1601delinsAA	XP_016856340.1:p.Gly534Lys
XM_017000852.1:c.2443_2444delinsAA	XP_016856341.1:p.Gly815Lys
NM_201253.3:c.2443_2444delinsAA MANE Select	NP_957705.1:p.Gly815Lys
NM_001193640.2:c.2107_2108delinsAA	NP_001180569.1:p.Gly703Lys
NM_001257965.2:c.2236_2237delinsAA	NP_001244894.1:p.Gly746Lys
NR_047563.2:n.2396_2397delinsAA
NR_047564.2:n.2604_2605delinsAA
NM_001257966.2:c.2128+5812_2128+5813delinsAA	NP_001244895.1:n.2128+5812_2128+5813delinsAA