Canonical Allele Identifier: CA1140762946

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427873_197427877delinsGGCTG , CM000663.2:g.197427873_197427877delinsGGCTG	GRCh38
NC_000001.10:g.197397003_197397007delinsGGCTG , CM000663.1:g.197397003_197397007delinsGGCTG	GRCh37
NC_000001.9:g.195663626_195663630delinsGGCTG	NCBI36
NG_008483.1:g.164596_164600delinsGGCTG
NG_008483.2:g.231412_231416delinsGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2548_2552delinsGGCTG MANE Select	ENSP00000356370.3:p.Gly850=
ENST00000638467.1:c.2548_2552delinsGGCTG	ENSP00000491102.1:p.Gly850=
ENST00000681519.1:c.1429_1433delinsGGCTG	ENSP00000505267.1:p.Gly477=
ENST00000367397.1:c.691_695delinsGGCTG	ENSP00000356367.1:p.Gly231=
ENST00000367399.6:c.2212_2216delinsGGCTG	ENSP00000356369.2:p.Gly738=
ENST00000367400.7:c.2548_2552delinsGGCTG	ENSP00000356370.3:p.Gly850=
ENST00000484075.5:c.2548_2552delinsGGCTG	ENSP00000433932.1:p.Gly850=
ENST00000535699.5:c.2341_2345delinsGGCTG	ENSP00000438786.1:p.Gly781=
ENST00000538660.5:c.2128+5917_2128+5921delinsGGCTG	ENSP00000438091.1:n.2128+5917_2128+5921delinsGGCTG
NM_001193640.1:c.2212_2216delinsGGCTG	NP_001180569.1:p.Gly738=
NM_001257965.1:c.2341_2345delinsGGCTG	NP_001244894.1:p.Gly781=
NM_001257966.1:c.2128+5917_2128+5921delinsGGCTG	NP_001244895.1:n.2128+5917_2128+5921delinsGGCTG
NM_201253.2:c.2548_2552delinsGGCTG	NP_957705.1:p.Gly850=
NR_047563.1:n.2549_2553delinsGGCTG
NR_047564.1:n.2757_2761delinsGGCTG
XM_011509365.1:c.2548_2552delinsGGCTG	XP_011507667.1:p.Gly850=
XM_011509366.1:c.2548_2552delinsGGCTG	XP_011507668.1:p.Gly850=
XM_011509367.1:c.2548_2552delinsGGCTG	XP_011507669.1:p.Gly850=
XM_011509368.1:c.1966_1970delinsGGCTG	XP_011507670.1:p.Gly656=
XM_011509369.1:c.991_995delinsGGCTG	XP_011507671.1:p.Gly331=
XM_011509365.2:c.2548_2552delinsGGCTG	XP_011507667.1:p.Gly850=
XM_011509369.2:c.991_995delinsGGCTG	XP_011507671.1:p.Gly331=
XM_017000851.1:c.1705_1709delinsGGCTG	XP_016856340.1:p.Gly569=
XM_017000852.1:c.2548_2552delinsGGCTG	XP_016856341.1:p.Gly850=
NM_201253.3:c.2548_2552delinsGGCTG MANE Select	NP_957705.1:p.Gly850=
NM_001193640.2:c.2212_2216delinsGGCTG	NP_001180569.1:p.Gly738=
NM_001257965.2:c.2341_2345delinsGGCTG	NP_001244894.1:p.Gly781=
NR_047563.2:n.2501_2505delinsGGCTG
NR_047564.2:n.2709_2713delinsGGCTG
NM_001257966.2:c.2128+5917_2128+5921delinsGGCTG	NP_001244895.1:n.2128+5917_2128+5921delinsGGCTG