Canonical Allele Identifier: CA1010919524

Gene: CRB1

Linked Data

• gnomAD v3: 1-197477900-ATGGG-A
• gnomAD v4: 1-197477900-ATGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477901_197477904del , CM000663.2:g.197477901_197477904del	GRCh38
NC_000001.10:g.197447031_197447034del , CM000663.1:g.197447031_197447034del	GRCh37
NC_000001.9:g.195713654_195713657del	NCBI36
NG_008483.1:g.214624_214627del
NG_008483.2:g.281440_281443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*22_*25del MANE Select	ENSP00000356370.3:n.*22_*25del
ENST00000367400.7:c.*22_*25del	ENSP00000356370.3:n.*22_*25del
ENST00000448952.1:c.477_480del	ENSP00000395407.1:n.477_480del
ENST00000484075.5:c.*354_*357del	ENSP00000433932.1:n.*354_*357del
ENST00000535699.5:c.*22_*25del	ENSP00000438786.1:n.*22_*25del
ENST00000538660.5:c.*22_*25del	ENSP00000438091.1:n.*22_*25del
NM_001193640.1:c.*22_*25del	NP_001180569.1:n.*22_*25del
NM_001257965.1:c.*22_*25del	NP_001244894.1:n.*22_*25del
NM_001257966.1:c.*22_*25del	NP_001244895.1:n.*22_*25del
NM_201253.2:c.*22_*25del	NP_957705.1:n.*22_*25del
NR_047563.1:n.4244_4247del
NR_047564.1:n.4694_4697del
XM_011509366.1:c.*348_*351del	XP_011507668.1:n.*348_*351del
XM_011509367.1:c.*222_*225del	XP_011507669.1:n.*222_*225del
XM_011509368.1:c.*22_*25del	XP_011507670.1:n.*22_*25del
XM_011509369.1:c.*22_*25del	XP_011507671.1:n.*22_*25del
XM_011509369.2:c.*22_*25del	XP_011507671.1:n.*22_*25del
XM_017000851.1:c.*22_*25del	XP_016856340.1:n.*22_*25del
XM_017000852.1:c.*22_*25del	XP_016856341.1:n.*22_*25del
NM_201253.3:c.*22_*25del MANE Select	NP_957705.1:n.*22_*25del
NM_001193640.2:c.*22_*25del	NP_001180569.1:n.*22_*25del
NM_001257965.2:c.*22_*25del	NP_001244894.1:n.*22_*25del
NR_047563.2:n.4196_4199del
NR_047564.2:n.4646_4649del
NM_001257966.2:c.*22_*25del	NP_001244895.1:n.*22_*25del