Canonical Allele Identifier: CA1218087342

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478006_197478007delinsTC , CM000663.2:g.197478006_197478007delinsTC	GRCh38
NC_000001.10:g.197447136_197447137delinsTC , CM000663.1:g.197447136_197447137delinsTC	GRCh37
NC_000001.9:g.195713759_195713760delinsTC	NCBI36
NG_008483.1:g.214729_214730delinsTC
NG_008483.2:g.281545_281546delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*127_*128delinsTC MANE Select	ENSP00000356370.3:n.*127_*128delinsTC
ENST00000367400.7:c.*127_*128delinsTC	ENSP00000356370.3:n.*127_*128delinsTC
ENST00000448952.1:c.582_583delinsTC	ENSP00000395407.1:n.582_583delinsTC
ENST00000484075.5:c.*459_*460delinsTC	ENSP00000433932.1:n.*459_*460delinsTC
ENST00000535699.5:c.*127_*128delinsTC	ENSP00000438786.1:n.*127_*128delinsTC
ENST00000538660.5:c.*127_*128delinsTC	ENSP00000438091.1:n.*127_*128delinsTC
NM_001193640.1:c.*127_*128delinsTC	NP_001180569.1:n.*127_*128delinsTC
NM_001257965.1:c.*127_*128delinsTC	NP_001244894.1:n.*127_*128delinsTC
NM_001257966.1:c.*127_*128delinsTC	NP_001244895.1:n.*127_*128delinsTC
NM_201253.2:c.*127_*128delinsTC	NP_957705.1:n.*127_*128delinsTC
NR_047563.1:n.4349_4350delinsTC
NR_047564.1:n.4799_4800delinsTC
XM_011509366.1:c.*453_*454delinsTC	XP_011507668.1:n.*453_*454delinsTC
XM_011509367.1:c.*327_*328delinsTC	XP_011507669.1:n.*327_*328delinsTC
XM_011509368.1:c.*127_*128delinsTC	XP_011507670.1:n.*127_*128delinsTC
XM_011509369.1:c.*127_*128delinsTC	XP_011507671.1:n.*127_*128delinsTC
XM_011509369.2:c.*127_*128delinsTC	XP_011507671.1:n.*127_*128delinsTC
XM_017000851.1:c.*127_*128delinsTC	XP_016856340.1:n.*127_*128delinsTC
XM_017000852.1:c.*127_*128delinsTC	XP_016856341.1:n.*127_*128delinsTC
NM_201253.3:c.*127_*128delinsTC MANE Select	NP_957705.1:n.*127_*128delinsTC
NM_001193640.2:c.*127_*128delinsTC	NP_001180569.1:n.*127_*128delinsTC
NM_001257965.2:c.*127_*128delinsTC	NP_001244894.1:n.*127_*128delinsTC
NR_047563.2:n.4301_4302delinsTC
NR_047564.2:n.4751_4752delinsTC
NM_001257966.2:c.*127_*128delinsTC	NP_001244895.1:n.*127_*128delinsTC