Canonical Allele Identifier: CA1218063064

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421271_197421280delinsAATCGCAACC , CM000663.2:g.197421271_197421280delinsAATCGCAACC	GRCh38
NC_000001.10:g.197390401_197390410delinsAATCGCAACC , CM000663.1:g.197390401_197390410delinsAATCGCAACC	GRCh37
NC_000001.9:g.195657024_195657033delinsAATCGCAACC	NCBI36
NG_008483.1:g.157994_158003delinsAATCGCAACC
NG_008483.2:g.224810_224819delinsAATCGCAACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1443_1452delinsAATCGCAACC MANE Select	ENSP00000356370.3:p.Glu481=
ENST00000638467.1:c.1443_1452delinsAATCGCAACC	ENSP00000491102.1:p.Glu481=
ENST00000681519.1:c.324_333delinsAATCGCAACC	ENSP00000505267.1:p.Glu108=
ENST00000367397.1:c.-415_-406delinsAATCGCAACC	ENSP00000356367.1:n.-415_-406delinsAATCGC...
ENST00000367399.6:c.1107_1116delinsAATCGCAACC	ENSP00000356369.2:p.Glu369=
ENST00000367400.7:c.1443_1452delinsAATCGCAACC	ENSP00000356370.3:p.Glu481=
ENST00000476483.1:n.403_412delinsAATCGCAACC
ENST00000484075.5:c.1443_1452delinsAATCGCAACC	ENSP00000433932.1:p.Glu481=
ENST00000535699.5:c.1236_1245delinsAATCGCAACC	ENSP00000438786.1:p.Glu412=
ENST00000538660.5:c.1443_1452delinsAATCGCAACC	ENSP00000438091.1:p.Glu481=
NM_001193640.1:c.1107_1116delinsAATCGCAACC	NP_001180569.1:p.Glu369=
NM_001257965.1:c.1236_1245delinsAATCGCAACC	NP_001244894.1:p.Glu412=
NM_001257966.1:c.1443_1452delinsAATCGCAACC	NP_001244895.1:p.Glu481=
NM_201253.2:c.1443_1452delinsAATCGCAACC	NP_957705.1:p.Glu481=
NR_047563.1:n.1652_1661delinsAATCGCAACC
NR_047564.1:n.1652_1661delinsAATCGCAACC
XM_011509365.1:c.1443_1452delinsAATCGCAACC	XP_011507667.1:p.Glu481=
XM_011509366.1:c.1443_1452delinsAATCGCAACC	XP_011507668.1:p.Glu481=
XM_011509367.1:c.1443_1452delinsAATCGCAACC	XP_011507669.1:p.Glu481=
XM_011509368.1:c.861_870delinsAATCGCAACC	XP_011507670.1:p.Glu287=
XM_011509369.1:c.-115_-106delinsAATCGCAACC	XP_011507671.1:n.-115_-106delinsAATCGCAAC...
XM_011509365.2:c.1443_1452delinsAATCGCAACC	XP_011507667.1:p.Glu481=
XM_011509369.2:c.-115_-106delinsAATCGCAACC	XP_011507671.1:n.-115_-106delinsAATCGCAAC...
XM_017000851.1:c.600_609delinsAATCGCAACC	XP_016856340.1:p.Glu200=
XM_017000852.1:c.1443_1452delinsAATCGCAACC	XP_016856341.1:p.Glu481=
NM_201253.3:c.1443_1452delinsAATCGCAACC MANE Select	NP_957705.1:p.Glu481=
NM_001193640.2:c.1107_1116delinsAATCGCAACC	NP_001180569.1:p.Glu369=
NM_001257965.2:c.1236_1245delinsAATCGCAACC	NP_001244894.1:p.Glu412=
NR_047563.2:n.1604_1613delinsAATCGCAACC
NR_047564.2:n.1604_1613delinsAATCGCAACC
NM_001257966.2:c.1443_1452delinsAATCGCAACC	NP_001244895.1:p.Glu481=