Canonical Allele Identifier: CA1312236

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1106425
• ClinVar RCV Id: RCV001431178 ; RCV002501525 ; RCV003446761 ; RCV003446759 ; RCV003446760
• dbSNP Id: rs776525385
• ExAC: 1:197403831 A / AT
• gnomAD v2: 1-197403831-A-AT
• gnomAD v4: 1-197434701-A-AT
• MyVariant Identifiers: chr1:g.197403831_197403832insT (hg19) ; chr1:g.197434701_197434702insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434703dup , CM000663.2:g.197434703dup	GRCh38
NC_000001.10:g.197403833dup , CM000663.1:g.197403833dup	GRCh37
NC_000001.9:g.195670456dup	NCBI36
NG_008483.1:g.171426dup
NG_008483.2:g.238242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2843-3dup MANE Select	ENSP00000356370.3:n.2843-3dup
ENST00000638467.1:c.2843-3dup	ENSP00000491102.1:n.2843-3dup
ENST00000681519.1:c.1724-3dup	ENSP00000505267.1:n.1724-3dup
ENST00000367397.1:c.986-3dup	ENSP00000356367.1:n.986-3dup
ENST00000367399.6:c.2507-3dup	ENSP00000356369.2:n.2507-3dup
ENST00000367400.7:c.2843-3dup	ENSP00000356370.3:n.2843-3dup
ENST00000484075.5:c.2843-3dup	ENSP00000433932.1:n.2843-3dup
ENST00000535699.5:c.2771-3dup	ENSP00000438786.1:n.2771-3dup
ENST00000538660.5:c.2129-897dup	ENSP00000438091.1:n.2129-897dup
NM_001193640.1:c.2507-3dup	NP_001180569.1:n.2507-3dup
NM_001257965.1:c.2771-3dup	NP_001244894.1:n.2771-3dup
NM_001257966.1:c.2129-897dup	NP_001244895.1:n.2129-897dup
NM_201253.2:c.2843-3dup	NP_957705.1:n.2843-3dup
NR_047563.1:n.2844-3dup
NR_047564.1:n.3052-3dup
XM_011509365.1:c.2843-3dup	XP_011507667.1:n.2843-3dup
XM_011509366.1:c.2843-3dup	XP_011507668.1:n.2843-3dup
XM_011509367.1:c.2843-3dup	XP_011507669.1:n.2843-3dup
XM_011509368.1:c.2261-3dup	XP_011507670.1:n.2261-3dup
XM_011509369.1:c.1286-3dup	XP_011507671.1:n.1286-3dup
XM_011509365.2:c.2843-3dup	XP_011507667.1:n.2843-3dup
XM_011509369.2:c.1286-3dup	XP_011507671.1:n.1286-3dup
XM_017000851.1:c.2000-3dup	XP_016856340.1:n.2000-3dup
XM_017000852.1:c.2978-3dup	XP_016856341.1:n.2978-3dup
NM_201253.3:c.2843-3dup MANE Select	NP_957705.1:n.2843-3dup
NM_001193640.2:c.2507-3dup	NP_001180569.1:n.2507-3dup
NM_001257965.2:c.2771-3dup	NP_001244894.1:n.2771-3dup
NR_047563.2:n.2796-3dup
NR_047564.2:n.3004-3dup
NM_001257966.2:c.2129-897dup	NP_001244895.1:n.2129-897dup