Canonical Allele Identifier: CA2747247611

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427631_197427632insACA , CM000663.2:g.197427631_197427632insACA	GRCh38
NC_000001.10:g.197396761_197396762insACA , CM000663.1:g.197396761_197396762insACA	GRCh37
NC_000001.9:g.195663384_195663385insACA	NCBI36
NG_008483.1:g.164354_164355insACA
NG_008483.2:g.231170_231171insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2306_2307insACA MANE Select	ENSP00000356370.3:p.Arg769_Gly770insHis
ENST00000638467.1:c.2306_2307insACA	ENSP00000491102.1:p.Arg769_Gly770insHis
ENST00000681519.1:c.1187_1188insACA	ENSP00000505267.1:p.Arg396_Gly397insHis
ENST00000367397.1:c.449_450insACA	ENSP00000356367.1:p.Arg150_Gly151insHis
ENST00000367399.6:c.1970_1971insACA	ENSP00000356369.2:p.Arg657_Gly658insHis
ENST00000367400.7:c.2306_2307insACA	ENSP00000356370.3:p.Arg769_Gly770insHis
ENST00000480086.2:n.207_208insACA
ENST00000484075.5:c.2306_2307insACA	ENSP00000433932.1:p.Arg769_Gly770insHis
ENST00000535699.5:c.2099_2100insACA	ENSP00000438786.1:p.Arg700_Gly701insHis
ENST00000538660.5:c.2128+5675_2128+5676insACA	ENSP00000438091.1:n.2128+5675_2128+5676insACA
NM_001193640.1:c.1970_1971insACA	NP_001180569.1:p.Arg657_Gly658insHis
NM_001257965.1:c.2099_2100insACA	NP_001244894.1:p.Arg700_Gly701insHis
NM_001257966.1:c.2128+5675_2128+5676insACA	NP_001244895.1:n.2128+5675_2128+5676insACA
NM_201253.2:c.2306_2307insACA	NP_957705.1:p.Arg769_Gly770insHis
NR_047563.1:n.2307_2308insACA
NR_047564.1:n.2515_2516insACA
XM_011509365.1:c.2306_2307insACA	XP_011507667.1:p.Arg769_Gly770insHis
XM_011509366.1:c.2306_2307insACA	XP_011507668.1:p.Arg769_Gly770insHis
XM_011509367.1:c.2306_2307insACA	XP_011507669.1:p.Arg769_Gly770insHis
XM_011509368.1:c.1724_1725insACA	XP_011507670.1:p.Arg575_Gly576insHis
XM_011509369.1:c.749_750insACA	XP_011507671.1:p.Arg250_Gly251insHis
XM_011509365.2:c.2306_2307insACA	XP_011507667.1:p.Arg769_Gly770insHis
XM_011509369.2:c.749_750insACA	XP_011507671.1:p.Arg250_Gly251insHis
XM_017000851.1:c.1463_1464insACA	XP_016856340.1:p.Arg488_Gly489insHis
XM_017000852.1:c.2306_2307insACA	XP_016856341.1:p.Arg769_Gly770insHis
NM_201253.3:c.2306_2307insACA MANE Select	NP_957705.1:p.Arg769_Gly770insHis
NM_001193640.2:c.1970_1971insACA	NP_001180569.1:p.Arg657_Gly658insHis
NM_001257965.2:c.2099_2100insACA	NP_001244894.1:p.Arg700_Gly701insHis
NR_047563.2:n.2259_2260insACA
NR_047564.2:n.2467_2468insACA
NM_001257966.2:c.2128+5675_2128+5676insACA	NP_001244895.1:n.2128+5675_2128+5676insACA