Canonical Allele Identifier: CA645534541

Gene: CRB1

Linked Data

• COSMIC: COSM143627

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421135_197421136delinsAA , CM000663.2:g.197421135_197421136delinsAA	GRCh38
NC_000001.10:g.197390265_197390266delinsAA , CM000663.1:g.197390265_197390266delinsAA	GRCh37
NC_000001.9:g.195656888_195656889delinsAA	NCBI36
NG_008483.1:g.157858_157859delinsAA
NG_008483.2:g.224674_224675delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1307_1308delinsAA MANE Select	ENSP00000356370.3:p.Arg436Lys
ENST00000638467.1:c.1307_1308delinsAA	ENSP00000491102.1:p.Arg436Lys
ENST00000681519.1:c.188_189delinsAA	ENSP00000505267.1:p.Arg63Lys
ENST00000367397.1:c.-551_-550delinsAA	ENSP00000356367.1:n.-551_-550delinsAA
ENST00000367399.6:c.971_972delinsAA	ENSP00000356369.2:p.Arg324Lys
ENST00000367400.7:c.1307_1308delinsAA	ENSP00000356370.3:p.Arg436Lys
ENST00000476483.1:n.267_268delinsAA
ENST00000484075.5:c.1307_1308delinsAA	ENSP00000433932.1:p.Arg436Lys
ENST00000535699.5:c.1100_1101delinsAA	ENSP00000438786.1:p.Arg367Lys
ENST00000538660.5:c.1307_1308delinsAA	ENSP00000438091.1:p.Arg436Lys
NM_001193640.1:c.971_972delinsAA	NP_001180569.1:p.Arg324Lys
NM_001257965.1:c.1100_1101delinsAA	NP_001244894.1:p.Arg367Lys
NM_001257966.1:c.1307_1308delinsAA	NP_001244895.1:p.Arg436Lys
NM_201253.2:c.1307_1308delinsAA	NP_957705.1:p.Arg436Lys
NR_047563.1:n.1516_1517delinsAA
NR_047564.1:n.1516_1517delinsAA
XM_011509365.1:c.1307_1308delinsAA	XP_011507667.1:p.Arg436Lys
XM_011509366.1:c.1307_1308delinsAA	XP_011507668.1:p.Arg436Lys
XM_011509367.1:c.1307_1308delinsAA	XP_011507669.1:p.Arg436Lys
XM_011509368.1:c.725_726delinsAA	XP_011507670.1:p.Arg242Lys
XM_011509369.1:c.-251_-250delinsAA	XP_011507671.1:n.-251_-250delinsAA
XM_011509365.2:c.1307_1308delinsAA	XP_011507667.1:p.Arg436Lys
XM_011509369.2:c.-251_-250delinsAA	XP_011507671.1:n.-251_-250delinsAA
XM_017000851.1:c.464_465delinsAA	XP_016856340.1:p.Arg155Lys
XM_017000852.1:c.1307_1308delinsAA	XP_016856341.1:p.Arg436Lys
NM_201253.3:c.1307_1308delinsAA MANE Select	NP_957705.1:p.Arg436Lys
NM_001193640.2:c.971_972delinsAA	NP_001180569.1:p.Arg324Lys
NM_001257965.2:c.1100_1101delinsAA	NP_001244894.1:p.Arg367Lys
NR_047563.2:n.1468_1469delinsAA
NR_047564.2:n.1468_1469delinsAA
NM_001257966.2:c.1307_1308delinsAA	NP_001244895.1:p.Arg436Lys