Canonical Allele Identifier: CA2499214385

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1069427
• ClinVar RCV Id: RCV001381291
• dbSNP Id: rs2125471663

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421802_197421818del , CM000663.2:g.197421802_197421818del	GRCh38
NC_000001.10:g.197390932_197390948del , CM000663.1:g.197390932_197390948del	GRCh37
NC_000001.9:g.195657555_195657571del	NCBI36
NG_008483.1:g.158525_158541del
NG_008483.2:g.225341_225357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1974_1990del MANE Select	ENSP00000356370.3:p.Ser659LysfsTer13
ENST00000638467.1:c.1974_1990del	ENSP00000491102.1:p.Ser659LysfsTer13
ENST00000681519.1:c.855_871del	ENSP00000505267.1:p.Ser286LysfsTer13
ENST00000367397.1:c.117_133del	ENSP00000356367.1:p.Ser40LysfsTer13
ENST00000367399.6:c.1638_1654del	ENSP00000356369.2:p.Ser547LysfsTer13
ENST00000367400.7:c.1974_1990del	ENSP00000356370.3:p.Ser659LysfsTer13
ENST00000484075.5:c.1974_1990del	ENSP00000433932.1:p.Ser659LysfsTer13
ENST00000535699.5:c.1767_1783del	ENSP00000438786.1:p.Ser590LysfsTer13
ENST00000538660.5:c.1974_1990del	ENSP00000438091.1:p.Ser659LysfsTer13
NM_001193640.1:c.1638_1654del	NP_001180569.1:p.Ser547LysfsTer13
NM_001257965.1:c.1767_1783del	NP_001244894.1:p.Ser590LysfsTer13
NM_001257966.1:c.1974_1990del	NP_001244895.1:p.Ser659LysfsTer13
NM_201253.2:c.1974_1990del	NP_957705.1:p.Ser659LysfsTer13
NR_047563.1:n.1975_1991del
NR_047564.1:n.2183_2199del
XM_011509365.1:c.1974_1990del	XP_011507667.1:p.Ser659LysfsTer13
XM_011509366.1:c.1974_1990del	XP_011507668.1:p.Ser659LysfsTer13
XM_011509367.1:c.1974_1990del	XP_011507669.1:p.Ser659LysfsTer13
XM_011509368.1:c.1392_1408del	XP_011507670.1:p.Ser465LysfsTer13
XM_011509369.1:c.417_433del	XP_011507671.1:p.Ser140LysfsTer13
XM_011509365.2:c.1974_1990del	XP_011507667.1:p.Ser659LysfsTer13
XM_011509369.2:c.417_433del	XP_011507671.1:p.Ser140LysfsTer13
XM_017000851.1:c.1131_1147del	XP_016856340.1:p.Ser378LysfsTer13
XM_017000852.1:c.1974_1990del	XP_016856341.1:p.Ser659LysfsTer13
NM_201253.3:c.1974_1990del MANE Select	NP_957705.1:p.Ser659LysfsTer13
NM_001193640.2:c.1638_1654del	NP_001180569.1:p.Ser547LysfsTer13
NM_001257965.2:c.1767_1783del	NP_001244894.1:p.Ser590LysfsTer13
NR_047563.2:n.1927_1943del
NR_047564.2:n.2135_2151del
NM_001257966.2:c.1974_1990del	NP_001244895.1:p.Ser659LysfsTer13