Canonical Allele Identifier: CA1312579

Gene: CRB1

Linked Data

• dbSNP Id: rs771621780
• ExAC: 1:197447031 TG / T
• gnomAD v2: 1-197447031-TG-T
• gnomAD v3: 1-197477901-TG-T
• gnomAD v4: 1-197477901-TG-T
• MyVariant Identifiers: chr1:g.197447032del (hg19) ; chr1:g.197477902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477905del , CM000663.2:g.197477905del	GRCh38
NC_000001.10:g.197447035del , CM000663.1:g.197447035del	GRCh37
NC_000001.9:g.195713658del	NCBI36
NG_008483.1:g.214628del
NG_008483.2:g.281444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*26del MANE Select	ENSP00000356370.3:n.*26del
ENST00000367400.7:c.*26del	ENSP00000356370.3:n.*26del
ENST00000448952.1:c.481del	ENSP00000395407.1:n.481del
ENST00000484075.5:c.*358del	ENSP00000433932.1:n.*358del
ENST00000535699.5:c.*26del	ENSP00000438786.1:n.*26del
ENST00000538660.5:c.*26del	ENSP00000438091.1:n.*26del
NM_001193640.1:c.*26del	NP_001180569.1:n.*26del
NM_001257965.1:c.*26del	NP_001244894.1:n.*26del
NM_001257966.1:c.*26del	NP_001244895.1:n.*26del
NM_201253.2:c.*26del	NP_957705.1:n.*26del
NR_047563.1:n.4248del
NR_047564.1:n.4698del
XM_011509366.1:c.*352del	XP_011507668.1:n.*352del
XM_011509367.1:c.*226del	XP_011507669.1:n.*226del
XM_011509368.1:c.*26del	XP_011507670.1:n.*26del
XM_011509369.1:c.*26del	XP_011507671.1:n.*26del
XM_011509369.2:c.*26del	XP_011507671.1:n.*26del
XM_017000851.1:c.*26del	XP_016856340.1:n.*26del
XM_017000852.1:c.*26del	XP_016856341.1:n.*26del
NM_201253.3:c.*26del MANE Select	NP_957705.1:n.*26del
NM_001193640.2:c.*26del	NP_001180569.1:n.*26del
NM_001257965.2:c.*26del	NP_001244894.1:n.*26del
NR_047563.2:n.4200del
NR_047564.2:n.4650del
NM_001257966.2:c.*26del	NP_001244895.1:n.*26del