Canonical Allele Identifier: CA2649672969

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477692-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477696_197477698del , CM000663.2:g.197477696_197477698del	GRCh38
NC_000001.10:g.197446826_197446828del , CM000663.1:g.197446826_197446828del	GRCh37
NC_000001.9:g.195713449_195713451del	NCBI36
NG_008483.1:g.214419_214421del
NG_008483.2:g.281235_281237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4038_4040del MANE Select	ENSP00000356370.3:p.Thr1347del
ENST00000367399.6:c.3702_3704del	ENSP00000356369.2:p.Thr1235del
ENST00000367400.7:c.4038_4040del	ENSP00000356370.3:p.Thr1347del
ENST00000448952.1:c.272_274del	ENSP00000395407.1:n.272_274del
ENST00000484075.5:c.*149_*151del	ENSP00000433932.1:n.*149_*151del
ENST00000535699.5:c.3966_3968del	ENSP00000438786.1:p.Thr1323del
ENST00000538660.5:c.2430_2432del	ENSP00000438091.1:p.Thr811del
NM_001193640.1:c.3702_3704del	NP_001180569.1:p.Thr1235del
NM_001257965.1:c.3966_3968del	NP_001244894.1:p.Thr1323del
NM_001257966.1:c.2430_2432del	NP_001244895.1:p.Thr811del
NM_201253.2:c.4038_4040del	NP_957705.1:p.Thr1347del
NR_047563.1:n.4039_4041del
NR_047564.1:n.4489_4491del
XM_011509366.1:c.*143_*145del	XP_011507668.1:n.*143_*145del
XM_011509367.1:c.*17_*19del	XP_011507669.1:n.*17_*19del
XM_011509368.1:c.3456_3458del	XP_011507670.1:p.Thr1153del
XM_011509369.1:c.2481_2483del	XP_011507671.1:p.Thr828del
XM_011509369.2:c.2481_2483del	XP_011507671.1:p.Thr828del
XM_017000851.1:c.3195_3197del	XP_016856340.1:p.Thr1066del
XM_017000852.1:c.4173_4175del	XP_016856341.1:p.Thr1392del
NM_201253.3:c.4038_4040del MANE Select	NP_957705.1:p.Thr1347del
NM_001193640.2:c.3702_3704del	NP_001180569.1:p.Thr1235del
NM_001257965.2:c.3966_3968del	NP_001244894.1:p.Thr1323del
NR_047563.2:n.3991_3993del
NR_047564.2:n.4441_4443del
NM_001257966.2:c.2430_2432del	NP_001244895.1:p.Thr811del