Canonical Allele Identifier: CA2649673082

Gene: CRB1

Linked Data

• gnomAD v4: 1-197478078-ATTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478079_197478082del , CM000663.2:g.197478079_197478082del	GRCh38
NC_000001.10:g.197447209_197447212del , CM000663.1:g.197447209_197447212del	GRCh37
NC_000001.9:g.195713832_195713835del	NCBI36
NG_008483.1:g.214802_214805del
NG_008483.2:g.281618_281621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*200_*203del MANE Select	ENSP00000356370.3:n.*200_*203del
ENST00000367400.7:c.*200_*203del	ENSP00000356370.3:n.*200_*203del
ENST00000448952.1:c.655_658del	ENSP00000395407.1:n.655_658del
ENST00000484075.5:c.*532_*535del	ENSP00000433932.1:n.*532_*535del
ENST00000535699.5:c.*200_*203del	ENSP00000438786.1:n.*200_*203del
ENST00000538660.5:c.*200_*203del	ENSP00000438091.1:n.*200_*203del
NM_001193640.1:c.*200_*203del	NP_001180569.1:n.*200_*203del
NM_001257965.1:c.*200_*203del	NP_001244894.1:n.*200_*203del
NM_001257966.1:c.*200_*203del	NP_001244895.1:n.*200_*203del
NM_201253.2:c.*200_*203del	NP_957705.1:n.*200_*203del
NR_047563.1:n.4422_4425del
NR_047564.1:n.4872_4875del
XM_011509366.1:c.*526_*529del	XP_011507668.1:n.*526_*529del
XM_011509367.1:c.*400_*403del	XP_011507669.1:n.*400_*403del
XM_011509368.1:c.*200_*203del	XP_011507670.1:n.*200_*203del
XM_011509369.1:c.*200_*203del	XP_011507671.1:n.*200_*203del
XM_011509369.2:c.*200_*203del	XP_011507671.1:n.*200_*203del
XM_017000851.1:c.*200_*203del	XP_016856340.1:n.*200_*203del
XM_017000852.1:c.*200_*203del	XP_016856341.1:n.*200_*203del
NM_201253.3:c.*200_*203del MANE Select	NP_957705.1:n.*200_*203del
NM_001193640.2:c.*200_*203del	NP_001180569.1:n.*200_*203del
NM_001257965.2:c.*200_*203del	NP_001244894.1:n.*200_*203del
NR_047563.2:n.4374_4377del
NR_047564.2:n.4824_4827del
NM_001257966.2:c.*200_*203del	NP_001244895.1:n.*200_*203del