Canonical Allele Identifier: CA2649673072

Gene: CRB1

Linked Data

• gnomAD v4: 1-197478071-T-TAATAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478071_197478072insAATAAAA , CM000663.2:g.197478071_197478072insAATAAAA	GRCh38
NC_000001.10:g.197447201_197447202insAATAAAA , CM000663.1:g.197447201_197447202insAATAAAA	GRCh37
NC_000001.9:g.195713824_195713825insAATAAAA	NCBI36
NG_008483.1:g.214794_214795insAATAAAA
NG_008483.2:g.281610_281611insAATAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*192_*193insAATAAAA MANE Select	ENSP00000356370.3:n.*192_*193insAATAAAA
ENST00000367400.7:c.*192_*193insAATAAAA	ENSP00000356370.3:n.*192_*193insAATAAAA
ENST00000448952.1:c.647_648insAATAAAA	ENSP00000395407.1:n.647_648insAATAAAA
ENST00000484075.5:c.*524_*525insAATAAAA	ENSP00000433932.1:n.*524_*525insAATAAAA
ENST00000535699.5:c.*192_*193insAATAAAA	ENSP00000438786.1:n.*192_*193insAATAAAA
ENST00000538660.5:c.*192_*193insAATAAAA	ENSP00000438091.1:n.*192_*193insAATAAAA
NM_001193640.1:c.*192_*193insAATAAAA	NP_001180569.1:n.*192_*193insAATAAAA
NM_001257965.1:c.*192_*193insAATAAAA	NP_001244894.1:n.*192_*193insAATAAAA
NM_001257966.1:c.*192_*193insAATAAAA	NP_001244895.1:n.*192_*193insAATAAAA
NM_201253.2:c.*192_*193insAATAAAA	NP_957705.1:n.*192_*193insAATAAAA
NR_047563.1:n.4414_4415insAATAAAA
NR_047564.1:n.4864_4865insAATAAAA
XM_011509366.1:c.*518_*519insAATAAAA	XP_011507668.1:n.*518_*519insAATAAAA
XM_011509367.1:c.*392_*393insAATAAAA	XP_011507669.1:n.*392_*393insAATAAAA
XM_011509368.1:c.*192_*193insAATAAAA	XP_011507670.1:n.*192_*193insAATAAAA
XM_011509369.1:c.*192_*193insAATAAAA	XP_011507671.1:n.*192_*193insAATAAAA
XM_011509369.2:c.*192_*193insAATAAAA	XP_011507671.1:n.*192_*193insAATAAAA
XM_017000851.1:c.*192_*193insAATAAAA	XP_016856340.1:n.*192_*193insAATAAAA
XM_017000852.1:c.*192_*193insAATAAAA	XP_016856341.1:n.*192_*193insAATAAAA
NM_201253.3:c.*192_*193insAATAAAA MANE Select	NP_957705.1:n.*192_*193insAATAAAA
NM_001193640.2:c.*192_*193insAATAAAA	NP_001180569.1:n.*192_*193insAATAAAA
NM_001257965.2:c.*192_*193insAATAAAA	NP_001244894.1:n.*192_*193insAATAAAA
NR_047563.2:n.4366_4367insAATAAAA
NR_047564.2:n.4816_4817insAATAAAA
NM_001257966.2:c.*192_*193insAATAAAA	NP_001244895.1:n.*192_*193insAATAAAA