Canonical Allele Identifier: CA1218066019

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427566_197427567delinsAC , CM000663.2:g.197427566_197427567delinsAC	GRCh38
NC_000001.10:g.197396696_197396697delinsAC , CM000663.1:g.197396696_197396697delinsAC	GRCh37
NC_000001.9:g.195663319_195663320delinsAC	NCBI36
NG_008483.1:g.164289_164290delinsAC
NG_008483.2:g.231105_231106delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2241_2242delinsAC MANE Select	ENSP00000356370.3:p.Gln747=
ENST00000638467.1:c.2241_2242delinsAC	ENSP00000491102.1:p.Gln747=
ENST00000681519.1:c.1122_1123delinsAC	ENSP00000505267.1:p.Gln374=
ENST00000367397.1:c.384_385delinsAC	ENSP00000356367.1:p.Gln128=
ENST00000367399.6:c.1905_1906delinsAC	ENSP00000356369.2:p.Gln635=
ENST00000367400.7:c.2241_2242delinsAC	ENSP00000356370.3:p.Gln747=
ENST00000480086.2:n.142_143delinsAC
ENST00000484075.5:c.2241_2242delinsAC	ENSP00000433932.1:p.Gln747=
ENST00000535699.5:c.2034_2035delinsAC	ENSP00000438786.1:p.Gln678=
ENST00000538660.5:c.2128+5610_2128+5611delinsAC	ENSP00000438091.1:n.2128+5610_2128+5611delinsAC
NM_001193640.1:c.1905_1906delinsAC	NP_001180569.1:p.Gln635=
NM_001257965.1:c.2034_2035delinsAC	NP_001244894.1:p.Gln678=
NM_001257966.1:c.2128+5610_2128+5611delinsAC	NP_001244895.1:n.2128+5610_2128+5611delinsAC
NM_201253.2:c.2241_2242delinsAC	NP_957705.1:p.Gln747=
NR_047563.1:n.2242_2243delinsAC
NR_047564.1:n.2450_2451delinsAC
XM_011509365.1:c.2241_2242delinsAC	XP_011507667.1:p.Gln747=
XM_011509366.1:c.2241_2242delinsAC	XP_011507668.1:p.Gln747=
XM_011509367.1:c.2241_2242delinsAC	XP_011507669.1:p.Gln747=
XM_011509368.1:c.1659_1660delinsAC	XP_011507670.1:p.Gln553=
XM_011509369.1:c.684_685delinsAC	XP_011507671.1:p.Gln228=
XM_011509365.2:c.2241_2242delinsAC	XP_011507667.1:p.Gln747=
XM_011509369.2:c.684_685delinsAC	XP_011507671.1:p.Gln228=
XM_017000851.1:c.1398_1399delinsAC	XP_016856340.1:p.Gln466=
XM_017000852.1:c.2241_2242delinsAC	XP_016856341.1:p.Gln747=
NM_201253.3:c.2241_2242delinsAC MANE Select	NP_957705.1:p.Gln747=
NM_001193640.2:c.1905_1906delinsAC	NP_001180569.1:p.Gln635=
NM_001257965.2:c.2034_2035delinsAC	NP_001244894.1:p.Gln678=
NR_047563.2:n.2194_2195delinsAC
NR_047564.2:n.2402_2403delinsAC
NM_001257966.2:c.2128+5610_2128+5611delinsAC	NP_001244895.1:n.2128+5610_2128+5611delinsAC