Canonical Allele Identifier: CA1218087172

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477591_197477609delinsGTAGTTCCATTGTCCTGAA , CM000663.2:g.197477591_197477609delinsGTAGTTCCATTGTCCTGAA	GRCh38
NC_000001.10:g.197446721_197446739delinsGTAGTTCCATTGTCCTGAA , CM000663.1:g.197446721_197446739delinsGTAGTTCCATTGTCCTGAA	GRCh37
NC_000001.9:g.195713344_195713362delinsGTAGTTCCATTGTCCTGAA	NCBI36
NG_008483.1:g.214314_214332delinsGTAGTTCCATTGTCCTGAA
NG_008483.2:g.281130_281148delinsGTAGTTCCATTGTCCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA MANE Select	ENSP00000356370.3:n.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA
ENST00000367399.6:c.3670-73_3670-55delinsGTAGTTCCATTGTCCTGAA	ENSP00000356369.2:n.3670-73_3670-55delinsGTAGTTCCATTGTCCTGAA
ENST00000367400.7:c.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA	ENSP00000356370.3:n.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA
ENST00000448952.1:c.167_185delinsGTAGTTCCATTGTCCTGAA	ENSP00000395407.1:n.167_185delinsGTAGTTCCATTGTCCTGAA
ENST00000484075.5:c.*117-73_*117-55delinsGTAGTTCCATTGTCCTGAA	ENSP00000433932.1:n.*117-73_*117-55delinsGTAGTTCCATTGTCCTGAA
ENST00000535699.5:c.3934-73_3934-55delinsGTAGTTCCATTGTCCTGAA	ENSP00000438786.1:n.3934-73_3934-55delinsGTAGTTCCATTGTCCTGAA
ENST00000538660.5:c.2398-73_2398-55delinsGTAGTTCCATTGTCCTGAA	ENSP00000438091.1:n.2398-73_2398-55delinsGTAGTTCCATTGTCCTGAA
NM_001193640.1:c.3670-73_3670-55delinsGTAGTTCCATTGTCCTGAA	NP_001180569.1:n.3670-73_3670-55delinsGTAGTTCCATTGTCCTGAA
NM_001257965.1:c.3934-73_3934-55delinsGTAGTTCCATTGTCCTGAA	NP_001244894.1:n.3934-73_3934-55delinsGTAGTTCCATTGTCCTGAA
NM_001257966.1:c.2398-73_2398-55delinsGTAGTTCCATTGTCCTGAA	NP_001244895.1:n.2398-73_2398-55delinsGTAGTTCCATTGTCCTGAA
NM_201253.2:c.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA	NP_957705.1:n.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA
NR_047563.1:n.4007-73_4007-55delinsGTAGTTCCATTGTCCTGAA
NR_047564.1:n.4457-73_4457-55delinsGTAGTTCCATTGTCCTGAA
XM_011509366.1:c.*38_*56delinsGTAGTTCCATTGTCCTGAA	XP_011507668.1:n.*38_*56delinsGTAGTTCCATTGTCCTGAA
XM_011509367.1:c.3879-73_3879-55delinsGTAGTTCCATTGTCCTGAA	XP_011507669.1:n.3879-73_3879-55delinsGTAGTTCCATTGTCCTGAA
XM_011509368.1:c.3424-73_3424-55delinsGTAGTTCCATTGTCCTGAA	XP_011507670.1:n.3424-73_3424-55delinsGTAGTTCCATTGTCCTGAA
XM_011509369.1:c.2449-73_2449-55delinsGTAGTTCCATTGTCCTGAA	XP_011507671.1:n.2449-73_2449-55delinsGTAGTTCCATTGTCCTGAA
XM_011509369.2:c.2449-73_2449-55delinsGTAGTTCCATTGTCCTGAA	XP_011507671.1:n.2449-73_2449-55delinsGTAGTTCCATTGTCCTGAA
XM_017000851.1:c.3163-73_3163-55delinsGTAGTTCCATTGTCCTGAA	XP_016856340.1:n.3163-73_3163-55delinsGTAGTTCCATTGTCCTGAA
XM_017000852.1:c.4141-73_4141-55delinsGTAGTTCCATTGTCCTGAA	XP_016856341.1:n.4141-73_4141-55delinsGTAGTTCCATTGTCCTGAA
NM_201253.3:c.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA MANE Select	NP_957705.1:n.4006-73_4006-55delinsGTAGTTCCATTGTCCTGAA
NM_001193640.2:c.3670-73_3670-55delinsGTAGTTCCATTGTCCTGAA	NP_001180569.1:n.3670-73_3670-55delinsGTAGTTCCATTGTCCTGAA
NM_001257965.2:c.3934-73_3934-55delinsGTAGTTCCATTGTCCTGAA	NP_001244894.1:n.3934-73_3934-55delinsGTAGTTCCATTGTCCTGAA
NR_047563.2:n.3959-73_3959-55delinsGTAGTTCCATTGTCCTGAA
NR_047564.2:n.4409-73_4409-55delinsGTAGTTCCATTGTCCTGAA
NM_001257966.2:c.2398-73_2398-55delinsGTAGTTCCATTGTCCTGAA	NP_001244895.1:n.2398-73_2398-55delinsGTAGTTCCATTGTCCTGAA