Canonical Allele Identifier: CA2573131440

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1395608
• ClinVar RCV Id: RCV001901218 ; RCV003475148
• dbSNP Id: rs2125471098

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421659del , CM000663.2:g.197421659del	GRCh38
NC_000001.10:g.197390789del , CM000663.1:g.197390789del	GRCh37
NC_000001.9:g.195657412del	NCBI36
NG_008483.1:g.158382del
NG_008483.2:g.225198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1831del MANE Select	ENSP00000356370.3:p.Ser611ProfsTer10
ENST00000638467.1:c.1831del	ENSP00000491102.1:p.Ser611ProfsTer10
ENST00000681519.1:c.712del	ENSP00000505267.1:p.Ser238ProfsTer10
ENST00000367397.1:c.-27del	ENSP00000356367.1:n.-27del
ENST00000367399.6:c.1495del	ENSP00000356369.2:p.Ser499ProfsTer10
ENST00000367400.7:c.1831del	ENSP00000356370.3:p.Ser611ProfsTer10
ENST00000484075.5:c.1831del	ENSP00000433932.1:p.Ser611ProfsTer10
ENST00000535699.5:c.1624del	ENSP00000438786.1:p.Ser542ProfsTer10
ENST00000538660.5:c.1831del	ENSP00000438091.1:p.Ser611ProfsTer10
NM_001193640.1:c.1495del	NP_001180569.1:p.Ser499ProfsTer10
NM_001257965.1:c.1624del	NP_001244894.1:p.Ser542ProfsTer10
NM_001257966.1:c.1831del	NP_001244895.1:p.Ser611ProfsTer10
NM_201253.2:c.1831del	NP_957705.1:p.Ser611ProfsTer10
NR_047563.1:n.1923-91del
NR_047564.1:n.2040del
XM_011509365.1:c.1831del	XP_011507667.1:p.Ser611ProfsTer10
XM_011509366.1:c.1831del	XP_011507668.1:p.Ser611ProfsTer10
XM_011509367.1:c.1831del	XP_011507669.1:p.Ser611ProfsTer10
XM_011509368.1:c.1249del	XP_011507670.1:p.Ser417ProfsTer10
XM_011509369.1:c.274del	XP_011507671.1:p.Ser92ProfsTer10
XM_011509365.2:c.1831del	XP_011507667.1:p.Ser611ProfsTer10
XM_011509369.2:c.274del	XP_011507671.1:p.Ser92ProfsTer10
XM_017000851.1:c.988del	XP_016856340.1:p.Ser330ProfsTer10
XM_017000852.1:c.1831del	XP_016856341.1:p.Ser611ProfsTer10
NM_201253.3:c.1831del MANE Select	NP_957705.1:p.Ser611ProfsTer10
NM_001193640.2:c.1495del	NP_001180569.1:p.Ser499ProfsTer10
NM_001257965.2:c.1624del	NP_001244894.1:p.Ser542ProfsTer10
NR_047563.2:n.1875-91del
NR_047564.2:n.1992del
NM_001257966.2:c.1831del	NP_001244895.1:p.Ser611ProfsTer10