Canonical Allele Identifier: CA1218066449

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427901_197427902delinsAC , CM000663.2:g.197427901_197427902delinsAC	GRCh38
NC_000001.10:g.197397031_197397032delinsAC , CM000663.1:g.197397031_197397032delinsAC	GRCh37
NC_000001.9:g.195663654_195663655delinsAC	NCBI36
NG_008483.1:g.164624_164625delinsAC
NG_008483.2:g.231440_231441delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2576_2577delinsAC MANE Select	ENSP00000356370.3:p.Asn859=
ENST00000638467.1:c.2576_2577delinsAC	ENSP00000491102.1:p.Asn859=
ENST00000681519.1:c.1457_1458delinsAC	ENSP00000505267.1:p.Asn486=
ENST00000367397.1:c.719_720delinsAC	ENSP00000356367.1:p.Asn240=
ENST00000367399.6:c.2240_2241delinsAC	ENSP00000356369.2:p.Asn747=
ENST00000367400.7:c.2576_2577delinsAC	ENSP00000356370.3:p.Asn859=
ENST00000484075.5:c.2576_2577delinsAC	ENSP00000433932.1:p.Asn859=
ENST00000535699.5:c.2369_2370delinsAC	ENSP00000438786.1:p.Asn790=
ENST00000538660.5:c.2128+5945_2128+5946delinsAC	ENSP00000438091.1:n.2128+5945_2128+5946delinsAC
NM_001193640.1:c.2240_2241delinsAC	NP_001180569.1:p.Asn747=
NM_001257965.1:c.2369_2370delinsAC	NP_001244894.1:p.Asn790=
NM_001257966.1:c.2128+5945_2128+5946delinsAC	NP_001244895.1:n.2128+5945_2128+5946delinsAC
NM_201253.2:c.2576_2577delinsAC	NP_957705.1:p.Asn859=
NR_047563.1:n.2577_2578delinsAC
NR_047564.1:n.2785_2786delinsAC
XM_011509365.1:c.2576_2577delinsAC	XP_011507667.1:p.Asn859=
XM_011509366.1:c.2576_2577delinsAC	XP_011507668.1:p.Asn859=
XM_011509367.1:c.2576_2577delinsAC	XP_011507669.1:p.Asn859=
XM_011509368.1:c.1994_1995delinsAC	XP_011507670.1:p.Asn665=
XM_011509369.1:c.1019_1020delinsAC	XP_011507671.1:p.Asn340=
XM_011509365.2:c.2576_2577delinsAC	XP_011507667.1:p.Asn859=
XM_011509369.2:c.1019_1020delinsAC	XP_011507671.1:p.Asn340=
XM_017000851.1:c.1733_1734delinsAC	XP_016856340.1:p.Asn578=
XM_017000852.1:c.2576_2577delinsAC	XP_016856341.1:p.Asn859=
NM_201253.3:c.2576_2577delinsAC MANE Select	NP_957705.1:p.Asn859=
NM_001193640.2:c.2240_2241delinsAC	NP_001180569.1:p.Asn747=
NM_001257965.2:c.2369_2370delinsAC	NP_001244894.1:p.Asn790=
NR_047563.2:n.2529_2530delinsAC
NR_047564.2:n.2737_2738delinsAC
NM_001257966.2:c.2128+5945_2128+5946delinsAC	NP_001244895.1:n.2128+5945_2128+5946delinsAC