Canonical Allele Identifier: CA1218087140

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477518_197477519delinsCT , CM000663.2:g.197477518_197477519delinsCT	GRCh38
NC_000001.10:g.197446648_197446649delinsCT , CM000663.1:g.197446648_197446649delinsCT	GRCh37
NC_000001.9:g.195713271_195713272delinsCT	NCBI36
NG_008483.1:g.214241_214242delinsCT
NG_008483.2:g.281057_281058delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006-146_4006-145delinsCT MANE Select	ENSP00000356370.3:n.4006-146_4006-145delinsCT
ENST00000367399.6:c.3670-146_3670-145delinsCT	ENSP00000356369.2:n.3670-146_3670-145delinsCT
ENST00000367400.7:c.4006-146_4006-145delinsCT	ENSP00000356370.3:n.4006-146_4006-145delinsCT
ENST00000448952.1:c.124-30_124-29delinsCT	ENSP00000395407.1:n.124-30_124-29delinsCT
ENST00000484075.5:c.*117-146_*117-145delinsCT	ENSP00000433932.1:n.*117-146_*117-145delinsCT
ENST00000535699.5:c.3934-146_3934-145delinsCT	ENSP00000438786.1:n.3934-146_3934-145delinsCT
ENST00000538660.5:c.2398-146_2398-145delinsCT	ENSP00000438091.1:n.2398-146_2398-145delinsCT
NM_001193640.1:c.3670-146_3670-145delinsCT	NP_001180569.1:n.3670-146_3670-145delinsCT
NM_001257965.1:c.3934-146_3934-145delinsCT	NP_001244894.1:n.3934-146_3934-145delinsCT
NM_001257966.1:c.2398-146_2398-145delinsCT	NP_001244895.1:n.2398-146_2398-145delinsCT
NM_201253.2:c.4006-146_4006-145delinsCT	NP_957705.1:n.4006-146_4006-145delinsCT
NR_047563.1:n.4007-146_4007-145delinsCT
NR_047564.1:n.4457-146_4457-145delinsCT
XM_011509366.1:c.4006-30_4006-29delinsCT	XP_011507668.1:n.4006-30_4006-29delinsCT
XM_011509367.1:c.3879-146_3879-145delinsCT	XP_011507669.1:n.3879-146_3879-145delinsCT
XM_011509368.1:c.3424-146_3424-145delinsCT	XP_011507670.1:n.3424-146_3424-145delinsCT
XM_011509369.1:c.2449-146_2449-145delinsCT	XP_011507671.1:n.2449-146_2449-145delinsCT
XM_011509369.2:c.2449-146_2449-145delinsCT	XP_011507671.1:n.2449-146_2449-145delinsCT
XM_017000851.1:c.3163-146_3163-145delinsCT	XP_016856340.1:n.3163-146_3163-145delinsCT
XM_017000852.1:c.4141-146_4141-145delinsCT	XP_016856341.1:n.4141-146_4141-145delinsCT
NM_201253.3:c.4006-146_4006-145delinsCT MANE Select	NP_957705.1:n.4006-146_4006-145delinsCT
NM_001193640.2:c.3670-146_3670-145delinsCT	NP_001180569.1:n.3670-146_3670-145delinsCT
NM_001257965.2:c.3934-146_3934-145delinsCT	NP_001244894.1:n.3934-146_3934-145delinsCT
NR_047563.2:n.3959-146_3959-145delinsCT
NR_047564.2:n.4409-146_4409-145delinsCT
NM_001257966.2:c.2398-146_2398-145delinsCT	NP_001244895.1:n.2398-146_2398-145delinsCT