Canonical Allele Identifier: CA2747247676

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427881_197427890del , CM000663.2:g.197427881_197427890del	GRCh38
NC_000001.10:g.197397011_197397020del , CM000663.1:g.197397011_197397020del	GRCh37
NC_000001.9:g.195663634_195663643del	NCBI36
NG_008483.1:g.164604_164613del
NG_008483.2:g.231420_231429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2556_2565del MANE Select	ENSP00000356370.3:p.Gln853AspfsTer2
ENST00000638467.1:c.2556_2565del	ENSP00000491102.1:p.Gln853AspfsTer2
ENST00000681519.1:c.1437_1446del	ENSP00000505267.1:p.Gln480AspfsTer2
ENST00000367397.1:c.699_708del	ENSP00000356367.1:p.Gln234AspfsTer2
ENST00000367399.6:c.2220_2229del	ENSP00000356369.2:p.Gln741AspfsTer2
ENST00000367400.7:c.2556_2565del	ENSP00000356370.3:p.Gln853AspfsTer2
ENST00000484075.5:c.2556_2565del	ENSP00000433932.1:p.Gln853AspfsTer2
ENST00000535699.5:c.2349_2358del	ENSP00000438786.1:p.Gln784AspfsTer2
ENST00000538660.5:c.2128+5925_2128+5934del	ENSP00000438091.1:n.2128+5925_2128+5934del
NM_001193640.1:c.2220_2229del	NP_001180569.1:p.Gln741AspfsTer2
NM_001257965.1:c.2349_2358del	NP_001244894.1:p.Gln784AspfsTer2
NM_001257966.1:c.2128+5925_2128+5934del	NP_001244895.1:n.2128+5925_2128+5934del
NM_201253.2:c.2556_2565del	NP_957705.1:p.Gln853AspfsTer2
NR_047563.1:n.2557_2566del
NR_047564.1:n.2765_2774del
XM_011509365.1:c.2556_2565del	XP_011507667.1:p.Gln853AspfsTer2
XM_011509366.1:c.2556_2565del	XP_011507668.1:p.Gln853AspfsTer2
XM_011509367.1:c.2556_2565del	XP_011507669.1:p.Gln853AspfsTer2
XM_011509368.1:c.1974_1983del	XP_011507670.1:p.Gln659AspfsTer2
XM_011509369.1:c.999_1008del	XP_011507671.1:p.Gln334AspfsTer2
XM_011509365.2:c.2556_2565del	XP_011507667.1:p.Gln853AspfsTer2
XM_011509369.2:c.999_1008del	XP_011507671.1:p.Gln334AspfsTer2
XM_017000851.1:c.1713_1722del	XP_016856340.1:p.Gln572AspfsTer2
XM_017000852.1:c.2556_2565del	XP_016856341.1:p.Gln853AspfsTer2
NM_201253.3:c.2556_2565del MANE Select	NP_957705.1:p.Gln853AspfsTer2
NM_001193640.2:c.2220_2229del	NP_001180569.1:p.Gln741AspfsTer2
NM_001257965.2:c.2349_2358del	NP_001244894.1:p.Gln784AspfsTer2
NR_047563.2:n.2509_2518del
NR_047564.2:n.2717_2726del
NM_001257966.2:c.2128+5925_2128+5934del	NP_001244895.1:n.2128+5925_2128+5934del