Canonical Allele Identifier: CA1218087344

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478008_197478009delinsCT , CM000663.2:g.197478008_197478009delinsCT	GRCh38
NC_000001.10:g.197447138_197447139delinsCT , CM000663.1:g.197447138_197447139delinsCT	GRCh37
NC_000001.9:g.195713761_195713762delinsCT	NCBI36
NG_008483.1:g.214731_214732delinsCT
NG_008483.2:g.281547_281548delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*129_*130delinsCT MANE Select	ENSP00000356370.3:n.*129_*130delinsCT
ENST00000367400.7:c.*129_*130delinsCT	ENSP00000356370.3:n.*129_*130delinsCT
ENST00000448952.1:c.584_585delinsCT	ENSP00000395407.1:n.584_585delinsCT
ENST00000484075.5:c.*461_*462delinsCT	ENSP00000433932.1:n.*461_*462delinsCT
ENST00000535699.5:c.*129_*130delinsCT	ENSP00000438786.1:n.*129_*130delinsCT
ENST00000538660.5:c.*129_*130delinsCT	ENSP00000438091.1:n.*129_*130delinsCT
NM_001193640.1:c.*129_*130delinsCT	NP_001180569.1:n.*129_*130delinsCT
NM_001257965.1:c.*129_*130delinsCT	NP_001244894.1:n.*129_*130delinsCT
NM_001257966.1:c.*129_*130delinsCT	NP_001244895.1:n.*129_*130delinsCT
NM_201253.2:c.*129_*130delinsCT	NP_957705.1:n.*129_*130delinsCT
NR_047563.1:n.4351_4352delinsCT
NR_047564.1:n.4801_4802delinsCT
XM_011509366.1:c.*455_*456delinsCT	XP_011507668.1:n.*455_*456delinsCT
XM_011509367.1:c.*329_*330delinsCT	XP_011507669.1:n.*329_*330delinsCT
XM_011509368.1:c.*129_*130delinsCT	XP_011507670.1:n.*129_*130delinsCT
XM_011509369.1:c.*129_*130delinsCT	XP_011507671.1:n.*129_*130delinsCT
XM_011509369.2:c.*129_*130delinsCT	XP_011507671.1:n.*129_*130delinsCT
XM_017000851.1:c.*129_*130delinsCT	XP_016856340.1:n.*129_*130delinsCT
XM_017000852.1:c.*129_*130delinsCT	XP_016856341.1:n.*129_*130delinsCT
NM_201253.3:c.*129_*130delinsCT MANE Select	NP_957705.1:n.*129_*130delinsCT
NM_001193640.2:c.*129_*130delinsCT	NP_001180569.1:n.*129_*130delinsCT
NM_001257965.2:c.*129_*130delinsCT	NP_001244894.1:n.*129_*130delinsCT
NR_047563.2:n.4303_4304delinsCT
NR_047564.2:n.4753_4754delinsCT
NM_001257966.2:c.*129_*130delinsCT	NP_001244895.1:n.*129_*130delinsCT