Canonical Allele Identifier: CA2747247683

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427907_197427921del , CM000663.2:g.197427907_197427921del	GRCh38
NC_000001.10:g.197397037_197397051del , CM000663.1:g.197397037_197397051del	GRCh37
NC_000001.9:g.195663660_195663674del	NCBI36
NG_008483.1:g.164630_164644del
NG_008483.2:g.231446_231460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2582_2596del MANE Select	ENSP00000356370.3:p.Asn861_Pro866delinsThr
ENST00000638467.1:c.2582_2596del	ENSP00000491102.1:p.Asn861_Pro866delinsThr
ENST00000681519.1:c.1463_1477del	ENSP00000505267.1:p.Asn488_Pro493delinsThr
ENST00000367397.1:c.725_739del	ENSP00000356367.1:p.Asn242_Pro247delinsThr
ENST00000367399.6:c.2246_2260del	ENSP00000356369.2:p.Asn749_Pro754delinsThr
ENST00000367400.7:c.2582_2596del	ENSP00000356370.3:p.Asn861_Pro866delinsThr
ENST00000484075.5:c.2582_2596del	ENSP00000433932.1:p.Asn861_Pro866delinsThr
ENST00000535699.5:c.2375_2389del	ENSP00000438786.1:p.Asn792_Pro797delinsThr
ENST00000538660.5:c.2128+5951_2128+5965del	ENSP00000438091.1:n.2128+5951_2128+5965del
NM_001193640.1:c.2246_2260del	NP_001180569.1:p.Asn749_Pro754delinsThr
NM_001257965.1:c.2375_2389del	NP_001244894.1:p.Asn792_Pro797delinsThr
NM_001257966.1:c.2128+5951_2128+5965del	NP_001244895.1:n.2128+5951_2128+5965del
NM_201253.2:c.2582_2596del	NP_957705.1:p.Asn861_Pro866delinsThr
NR_047563.1:n.2583_2597del
NR_047564.1:n.2791_2805del
XM_011509365.1:c.2582_2596del	XP_011507667.1:p.Asn861_Pro866delinsThr
XM_011509366.1:c.2582_2596del	XP_011507668.1:p.Asn861_Pro866delinsThr
XM_011509367.1:c.2582_2596del	XP_011507669.1:p.Asn861_Pro866delinsThr
XM_011509368.1:c.2000_2014del	XP_011507670.1:p.Asn667_Pro672delinsThr
XM_011509369.1:c.1025_1039del	XP_011507671.1:p.Asn342_Pro347delinsThr
XM_011509365.2:c.2582_2596del	XP_011507667.1:p.Asn861_Pro866delinsThr
XM_011509369.2:c.1025_1039del	XP_011507671.1:p.Asn342_Pro347delinsThr
XM_017000851.1:c.1739_1753del	XP_016856340.1:p.Asn580_Pro585delinsThr
XM_017000852.1:c.2582_2596del	XP_016856341.1:p.Asn861_Pro866delinsThr
NM_201253.3:c.2582_2596del MANE Select	NP_957705.1:p.Asn861_Pro866delinsThr
NM_001193640.2:c.2246_2260del	NP_001180569.1:p.Asn749_Pro754delinsThr
NM_001257965.2:c.2375_2389del	NP_001244894.1:p.Asn792_Pro797delinsThr
NR_047563.2:n.2535_2549del
NR_047564.2:n.2743_2757del
NM_001257966.2:c.2128+5951_2128+5965del	NP_001244895.1:n.2128+5951_2128+5965del