Canonical Allele Identifier: CA35896083

Gene: CRB1

Linked Data

• dbSNP Id: rs978643459
• gnomAD v2: 1-197447188-TTATTA-T
• gnomAD v3: 1-197478058-TTATTA-T
• gnomAD v4: 1-197478058-TTATTA-T
• MyVariant Identifiers: chr1:g.197447189_197447193del (hg19) ; chr1:g.197478059_197478063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478067_197478071del , CM000663.2:g.197478067_197478071del	GRCh38
NC_000001.10:g.197447197_197447201del , CM000663.1:g.197447197_197447201del	GRCh37
NC_000001.9:g.195713820_195713824del	NCBI36
NG_008483.1:g.214790_214794del
NG_008483.2:g.281606_281610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*188_*192del MANE Select	ENSP00000356370.3:n.*188_*192del
ENST00000367400.7:c.*188_*192del	ENSP00000356370.3:n.*188_*192del
ENST00000448952.1:c.643_647del	ENSP00000395407.1:n.643_647del
ENST00000484075.5:c.*520_*524del	ENSP00000433932.1:n.*520_*524del
ENST00000535699.5:c.*188_*192del	ENSP00000438786.1:n.*188_*192del
ENST00000538660.5:c.*188_*192del	ENSP00000438091.1:n.*188_*192del
NM_001193640.1:c.*188_*192del	NP_001180569.1:n.*188_*192del
NM_001257965.1:c.*188_*192del	NP_001244894.1:n.*188_*192del
NM_001257966.1:c.*188_*192del	NP_001244895.1:n.*188_*192del
NM_201253.2:c.*188_*192del	NP_957705.1:n.*188_*192del
NR_047563.1:n.4410_4414del
NR_047564.1:n.4860_4864del
XM_011509366.1:c.*514_*518del	XP_011507668.1:n.*514_*518del
XM_011509367.1:c.*388_*392del	XP_011507669.1:n.*388_*392del
XM_011509368.1:c.*188_*192del	XP_011507670.1:n.*188_*192del
XM_011509369.1:c.*188_*192del	XP_011507671.1:n.*188_*192del
XM_011509369.2:c.*188_*192del	XP_011507671.1:n.*188_*192del
XM_017000851.1:c.*188_*192del	XP_016856340.1:n.*188_*192del
XM_017000852.1:c.*188_*192del	XP_016856341.1:n.*188_*192del
NM_201253.3:c.*188_*192del MANE Select	NP_957705.1:n.*188_*192del
NM_001193640.2:c.*188_*192del	NP_001180569.1:n.*188_*192del
NM_001257965.2:c.*188_*192del	NP_001244894.1:n.*188_*192del
NR_047563.2:n.4362_4366del
NR_047564.2:n.4812_4816del
NM_001257966.2:c.*188_*192del	NP_001244895.1:n.*188_*192del