Canonical Allele Identifier: CA2649670636

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434746-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434748dup , CM000663.2:g.197434748dup	GRCh38
NC_000001.10:g.197403878dup , CM000663.1:g.197403878dup	GRCh37
NC_000001.9:g.195670501dup	NCBI36
NG_008483.1:g.171471dup
NG_008483.2:g.238287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2885dup MANE Select	ENSP00000356370.3:p.Leu962PhefsTer?
ENST00000638467.1:c.2885dup	ENSP00000491102.1:p.Leu962PhefsTer?
ENST00000681519.1:c.1766dup	ENSP00000505267.1:p.Leu589PhefsTer?
ENST00000367397.1:c.1028dup	ENSP00000356367.1:p.Leu343PhefsTer?
ENST00000367399.6:c.2549dup	ENSP00000356369.2:p.Leu850PhefsTer?
ENST00000367400.7:c.2885dup	ENSP00000356370.3:p.Leu962PhefsTer?
ENST00000484075.5:c.2885dup	ENSP00000433932.1:p.Leu962PhefsTer?
ENST00000535699.5:c.2813dup	ENSP00000438786.1:p.Leu938PhefsTer?
ENST00000538660.5:c.2129-852dup	ENSP00000438091.1:n.2129-852dup
NM_001193640.1:c.2549dup	NP_001180569.1:p.Leu850PhefsTer?
NM_001257965.1:c.2813dup	NP_001244894.1:p.Leu938PhefsTer?
NM_001257966.1:c.2129-852dup	NP_001244895.1:n.2129-852dup
NM_201253.2:c.2885dup	NP_957705.1:p.Leu962PhefsTer?
NR_047563.1:n.2886dup
NR_047564.1:n.3094dup
XM_011509365.1:c.2885dup	XP_011507667.1:p.Leu962PhefsTer?
XM_011509366.1:c.2885dup	XP_011507668.1:p.Leu962PhefsTer?
XM_011509367.1:c.2885dup	XP_011507669.1:p.Leu962PhefsTer?
XM_011509368.1:c.2303dup	XP_011507670.1:p.Leu768PhefsTer?
XM_011509369.1:c.1328dup	XP_011507671.1:p.Leu443PhefsTer?
XM_011509365.2:c.2885dup	XP_011507667.1:p.Leu962PhefsTer?
XM_011509369.2:c.1328dup	XP_011507671.1:p.Leu443PhefsTer?
XM_017000851.1:c.2042dup	XP_016856340.1:p.Leu681PhefsTer?
XM_017000852.1:c.3020dup	XP_016856341.1:p.Leu1007PhefsTer?
NM_201253.3:c.2885dup MANE Select	NP_957705.1:p.Leu962PhefsTer?
NM_001193640.2:c.2549dup	NP_001180569.1:p.Leu850PhefsTer?
NM_001257965.2:c.2813dup	NP_001244894.1:p.Leu938PhefsTer?
NR_047563.2:n.2838dup
NR_047564.2:n.3046dup
NM_001257966.2:c.2129-852dup	NP_001244895.1:n.2129-852dup