Canonical Allele Identifier: CA2831039339

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435198del , CM000663.2:g.197435198del	GRCh38
NC_000001.10:g.197404328del , CM000663.1:g.197404328del	GRCh37
NC_000001.9:g.195670951del	NCBI36
NG_008483.1:g.171921del
NG_008483.2:g.238737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3335del MANE Select	ENSP00000356370.3:p.Asn1112MetfsTer29
ENST00000638467.1:c.3335del	ENSP00000491102.1:p.Asn1112MetfsTer29
ENST00000681519.1:c.2216del	ENSP00000505267.1:p.Asn739MetfsTer29
ENST00000367397.1:c.1478del	ENSP00000356367.1:p.Asn493MetfsTer29
ENST00000367399.6:c.2999del	ENSP00000356369.2:p.Asn1000MetfsTer29
ENST00000367400.7:c.3335del	ENSP00000356370.3:p.Asn1112MetfsTer29
ENST00000484075.5:c.3335del	ENSP00000433932.1:p.Asn1112MetfsTer29
ENST00000535699.5:c.3263del	ENSP00000438786.1:p.Asn1088MetfsTer29
ENST00000538660.5:c.2129-402del	ENSP00000438091.1:n.2129-402del
NM_001193640.1:c.2999del	NP_001180569.1:p.Asn1000MetfsTer29
NM_001257965.1:c.3263del	NP_001244894.1:p.Asn1088MetfsTer29
NM_001257966.1:c.2129-402del	NP_001244895.1:n.2129-402del
NM_201253.2:c.3335del	NP_957705.1:p.Asn1112MetfsTer29
NR_047563.1:n.3336del
NR_047564.1:n.3544del
XM_011509365.1:c.3335del	XP_011507667.1:p.Asn1112MetfsTer29
XM_011509366.1:c.3335del	XP_011507668.1:p.Asn1112MetfsTer29
XM_011509367.1:c.3335del	XP_011507669.1:p.Asn1112MetfsTer29
XM_011509368.1:c.2753del	XP_011507670.1:p.Asn918MetfsTer29
XM_011509369.1:c.1778del	XP_011507671.1:p.Asn593MetfsTer29
XM_011509365.2:c.3335del	XP_011507667.1:p.Asn1112MetfsTer29
XM_011509369.2:c.1778del	XP_011507671.1:p.Asn593MetfsTer29
XM_017000851.1:c.2492del	XP_016856340.1:p.Asn831MetfsTer29
XM_017000852.1:c.3470del	XP_016856341.1:p.Asn1157MetfsTer29
NM_201253.3:c.3335del MANE Select	NP_957705.1:p.Asn1112MetfsTer29
NM_001193640.2:c.2999del	NP_001180569.1:p.Asn1000MetfsTer29
NM_001257965.2:c.3263del	NP_001244894.1:p.Asn1088MetfsTer29
NR_047563.2:n.3288del
NR_047564.2:n.3496del
NM_001257966.2:c.2129-402del	NP_001244895.1:n.2129-402del