Canonical Allele Identifier: CA1218066022

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427567_197427570delinsCCAT , CM000663.2:g.197427567_197427570delinsCCAT	GRCh38
NC_000001.10:g.197396697_197396700delinsCCAT , CM000663.1:g.197396697_197396700delinsCCAT	GRCh37
NC_000001.9:g.195663320_195663323delinsCCAT	NCBI36
NG_008483.1:g.164290_164293delinsCCAT
NG_008483.2:g.231106_231109delinsCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2242_2245delinsCCAT MANE Select	ENSP00000356370.3:p.Pro748=
ENST00000638467.1:c.2242_2245delinsCCAT	ENSP00000491102.1:p.Pro748=
ENST00000681519.1:c.1123_1126delinsCCAT	ENSP00000505267.1:p.Pro375=
ENST00000367397.1:c.385_388delinsCCAT	ENSP00000356367.1:p.Pro129=
ENST00000367399.6:c.1906_1909delinsCCAT	ENSP00000356369.2:p.Pro636=
ENST00000367400.7:c.2242_2245delinsCCAT	ENSP00000356370.3:p.Pro748=
ENST00000480086.2:n.143_146delinsCCAT
ENST00000484075.5:c.2242_2245delinsCCAT	ENSP00000433932.1:p.Pro748=
ENST00000535699.5:c.2035_2038delinsCCAT	ENSP00000438786.1:p.Pro679=
ENST00000538660.5:c.2128+5611_2128+5614delinsCCAT	ENSP00000438091.1:n.2128+5611_2128+5614delinsCCAT
NM_001193640.1:c.1906_1909delinsCCAT	NP_001180569.1:p.Pro636=
NM_001257965.1:c.2035_2038delinsCCAT	NP_001244894.1:p.Pro679=
NM_001257966.1:c.2128+5611_2128+5614delinsCCAT	NP_001244895.1:n.2128+5611_2128+5614delinsCCAT
NM_201253.2:c.2242_2245delinsCCAT	NP_957705.1:p.Pro748=
NR_047563.1:n.2243_2246delinsCCAT
NR_047564.1:n.2451_2454delinsCCAT
XM_011509365.1:c.2242_2245delinsCCAT	XP_011507667.1:p.Pro748=
XM_011509366.1:c.2242_2245delinsCCAT	XP_011507668.1:p.Pro748=
XM_011509367.1:c.2242_2245delinsCCAT	XP_011507669.1:p.Pro748=
XM_011509368.1:c.1660_1663delinsCCAT	XP_011507670.1:p.Pro554=
XM_011509369.1:c.685_688delinsCCAT	XP_011507671.1:p.Pro229=
XM_011509365.2:c.2242_2245delinsCCAT	XP_011507667.1:p.Pro748=
XM_011509369.2:c.685_688delinsCCAT	XP_011507671.1:p.Pro229=
XM_017000851.1:c.1399_1402delinsCCAT	XP_016856340.1:p.Pro467=
XM_017000852.1:c.2242_2245delinsCCAT	XP_016856341.1:p.Pro748=
NM_201253.3:c.2242_2245delinsCCAT MANE Select	NP_957705.1:p.Pro748=
NM_001193640.2:c.1906_1909delinsCCAT	NP_001180569.1:p.Pro636=
NM_001257965.2:c.2035_2038delinsCCAT	NP_001244894.1:p.Pro679=
NR_047563.2:n.2195_2198delinsCCAT
NR_047564.2:n.2403_2406delinsCCAT
NM_001257966.2:c.2128+5611_2128+5614delinsCCAT	NP_001244895.1:n.2128+5611_2128+5614delinsCCAT