Canonical Allele Identifier: CA1218068691

Gene: CRB1

Linked Data

• dbSNP Id: rs1665052131

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434849_197434850insATTTGCAATAC , CM000663.2:g.197434849_197434850insATTTGCAATAC	GRCh38
NC_000001.10:g.197403979_197403980insATTTGCAATAC , CM000663.1:g.197403979_197403980insATTTGCAATAC	GRCh37
NC_000001.9:g.195670602_195670603insATTTGCAATAC	NCBI36
NG_008483.1:g.171572_171573insATTTGCAATAC
NG_008483.2:g.238388_238389insATTTGCAATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2986_2987insATTTGCAATAC MANE Select	ENSP00000356370.3:p.Pro996HisfsTer30
ENST00000638467.1:c.2986_2987insATTTGCAATAC	ENSP00000491102.1:p.Pro996HisfsTer30
ENST00000681519.1:c.1867_1868insATTTGCAATAC	ENSP00000505267.1:p.Pro623HisfsTer30
ENST00000367397.1:c.1129_1130insATTTGCAATAC	ENSP00000356367.1:p.Pro377HisfsTer30
ENST00000367399.6:c.2650_2651insATTTGCAATAC	ENSP00000356369.2:p.Pro884HisfsTer30
ENST00000367400.7:c.2986_2987insATTTGCAATAC	ENSP00000356370.3:p.Pro996HisfsTer30
ENST00000484075.5:c.2986_2987insATTTGCAATAC	ENSP00000433932.1:p.Pro996HisfsTer30
ENST00000535699.5:c.2914_2915insATTTGCAATAC	ENSP00000438786.1:p.Pro972HisfsTer30
ENST00000538660.5:c.2129-751_2129-750insATTTGCAATAC	ENSP00000438091.1:n.2129-751_2129-750insATTTGCAATAC
NM_001193640.1:c.2650_2651insATTTGCAATAC	NP_001180569.1:p.Pro884HisfsTer30
NM_001257965.1:c.2914_2915insATTTGCAATAC	NP_001244894.1:p.Pro972HisfsTer30
NM_001257966.1:c.2129-751_2129-750insATTTGCAATAC	NP_001244895.1:n.2129-751_2129-750insATTTGCAATAC
NM_201253.2:c.2986_2987insATTTGCAATAC	NP_957705.1:p.Pro996HisfsTer30
NR_047563.1:n.2987_2988insATTTGCAATAC
NR_047564.1:n.3195_3196insATTTGCAATAC
XM_011509365.1:c.2986_2987insATTTGCAATAC	XP_011507667.1:p.Pro996HisfsTer30
XM_011509366.1:c.2986_2987insATTTGCAATAC	XP_011507668.1:p.Pro996HisfsTer30
XM_011509367.1:c.2986_2987insATTTGCAATAC	XP_011507669.1:p.Pro996HisfsTer30
XM_011509368.1:c.2404_2405insATTTGCAATAC	XP_011507670.1:p.Pro802HisfsTer30
XM_011509369.1:c.1429_1430insATTTGCAATAC	XP_011507671.1:p.Pro477HisfsTer30
XM_011509365.2:c.2986_2987insATTTGCAATAC	XP_011507667.1:p.Pro996HisfsTer30
XM_011509369.2:c.1429_1430insATTTGCAATAC	XP_011507671.1:p.Pro477HisfsTer30
XM_017000851.1:c.2143_2144insATTTGCAATAC	XP_016856340.1:p.Pro715HisfsTer30
XM_017000852.1:c.3121_3122insATTTGCAATAC	XP_016856341.1:p.Pro1041HisfsTer30
NM_201253.3:c.2986_2987insATTTGCAATAC MANE Select	NP_957705.1:p.Pro996HisfsTer30
NM_001193640.2:c.2650_2651insATTTGCAATAC	NP_001180569.1:p.Pro884HisfsTer30
NM_001257965.2:c.2914_2915insATTTGCAATAC	NP_001244894.1:p.Pro972HisfsTer30
NR_047563.2:n.2939_2940insATTTGCAATAC
NR_047564.2:n.3147_3148insATTTGCAATAC
NM_001257966.2:c.2129-751_2129-750insATTTGCAATAC	NP_001244895.1:n.2129-751_2129-750insATTTGCAATAC