Canonical Allele Identifier: CA35895997

Gene: CRB1

Linked Data

• dbSNP Id: rs1030330567
• gnomAD v3: 1-197478008-CT-C
• gnomAD v4: 1-197478008-CT-C
• MyVariant Identifiers: chr1:g.197447139del (hg19) ; chr1:g.197478009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478011del , CM000663.2:g.197478011del	GRCh38
NC_000001.10:g.197447141del , CM000663.1:g.197447141del	GRCh37
NC_000001.9:g.195713764del	NCBI36
NG_008483.1:g.214734del
NG_008483.2:g.281550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*132del MANE Select	ENSP00000356370.3:n.*132del
ENST00000367400.7:c.*132del	ENSP00000356370.3:n.*132del
ENST00000448952.1:c.587del	ENSP00000395407.1:n.587del
ENST00000484075.5:c.*464del	ENSP00000433932.1:n.*464del
ENST00000535699.5:c.*132del	ENSP00000438786.1:n.*132del
ENST00000538660.5:c.*132del	ENSP00000438091.1:n.*132del
NM_001193640.1:c.*132del	NP_001180569.1:n.*132del
NM_001257965.1:c.*132del	NP_001244894.1:n.*132del
NM_001257966.1:c.*132del	NP_001244895.1:n.*132del
NM_201253.2:c.*132del	NP_957705.1:n.*132del
NR_047563.1:n.4354del
NR_047564.1:n.4804del
XM_011509366.1:c.*458del	XP_011507668.1:n.*458del
XM_011509367.1:c.*332del	XP_011507669.1:n.*332del
XM_011509368.1:c.*132del	XP_011507670.1:n.*132del
XM_011509369.1:c.*132del	XP_011507671.1:n.*132del
XM_011509369.2:c.*132del	XP_011507671.1:n.*132del
XM_017000851.1:c.*132del	XP_016856340.1:n.*132del
XM_017000852.1:c.*132del	XP_016856341.1:n.*132del
NM_201253.3:c.*132del MANE Select	NP_957705.1:n.*132del
NM_001193640.2:c.*132del	NP_001180569.1:n.*132del
NM_001257965.2:c.*132del	NP_001244894.1:n.*132del
NR_047563.2:n.4306del
NR_047564.2:n.4756del
NM_001257966.2:c.*132del	NP_001244895.1:n.*132del