Canonical Allele Identifier: CA1218063276

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421798_197421799delinsAC , CM000663.2:g.197421798_197421799delinsAC	GRCh38
NC_000001.10:g.197390928_197390929delinsAC , CM000663.1:g.197390928_197390929delinsAC	GRCh37
NC_000001.9:g.195657551_195657552delinsAC	NCBI36
NG_008483.1:g.158521_158522delinsAC
NG_008483.2:g.225337_225338delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1970_1971delinsAC MANE Select	ENSP00000356370.3:p.Asn657=
ENST00000638467.1:c.1970_1971delinsAC	ENSP00000491102.1:p.Asn657=
ENST00000681519.1:c.851_852delinsAC	ENSP00000505267.1:p.Asn284=
ENST00000367397.1:c.113_114delinsAC	ENSP00000356367.1:p.Asn38=
ENST00000367399.6:c.1634_1635delinsAC	ENSP00000356369.2:p.Asn545=
ENST00000367400.7:c.1970_1971delinsAC	ENSP00000356370.3:p.Asn657=
ENST00000484075.5:c.1970_1971delinsAC	ENSP00000433932.1:p.Asn657=
ENST00000535699.5:c.1763_1764delinsAC	ENSP00000438786.1:p.Asn588=
ENST00000538660.5:c.1970_1971delinsAC	ENSP00000438091.1:p.Asn657=
NM_001193640.1:c.1634_1635delinsAC	NP_001180569.1:p.Asn545=
NM_001257965.1:c.1763_1764delinsAC	NP_001244894.1:p.Asn588=
NM_001257966.1:c.1970_1971delinsAC	NP_001244895.1:p.Asn657=
NM_201253.2:c.1970_1971delinsAC	NP_957705.1:p.Asn657=
NR_047563.1:n.1971_1972delinsAC
NR_047564.1:n.2179_2180delinsAC
XM_011509365.1:c.1970_1971delinsAC	XP_011507667.1:p.Asn657=
XM_011509366.1:c.1970_1971delinsAC	XP_011507668.1:p.Asn657=
XM_011509367.1:c.1970_1971delinsAC	XP_011507669.1:p.Asn657=
XM_011509368.1:c.1388_1389delinsAC	XP_011507670.1:p.Asn463=
XM_011509369.1:c.413_414delinsAC	XP_011507671.1:p.Asn138=
XM_011509365.2:c.1970_1971delinsAC	XP_011507667.1:p.Asn657=
XM_011509369.2:c.413_414delinsAC	XP_011507671.1:p.Asn138=
XM_017000851.1:c.1127_1128delinsAC	XP_016856340.1:p.Asn376=
XM_017000852.1:c.1970_1971delinsAC	XP_016856341.1:p.Asn657=
NM_201253.3:c.1970_1971delinsAC MANE Select	NP_957705.1:p.Asn657=
NM_001193640.2:c.1634_1635delinsAC	NP_001180569.1:p.Asn545=
NM_001257965.2:c.1763_1764delinsAC	NP_001244894.1:p.Asn588=
NR_047563.2:n.1923_1924delinsAC
NR_047564.2:n.2131_2132delinsAC
NM_001257966.2:c.1970_1971delinsAC	NP_001244895.1:p.Asn657=