Canonical Allele Identifier: CA1218063284

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421811_197421814delinsCTCA , CM000663.2:g.197421811_197421814delinsCTCA	GRCh38
NC_000001.10:g.197390941_197390944delinsCTCA , CM000663.1:g.197390941_197390944delinsCTCA	GRCh37
NC_000001.9:g.195657564_195657567delinsCTCA	NCBI36
NG_008483.1:g.158534_158537delinsCTCA
NG_008483.2:g.225350_225353delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1983_1986delinsCTCA MANE Select	ENSP00000356370.3:p.Gly661=
ENST00000638467.1:c.1983_1986delinsCTCA	ENSP00000491102.1:p.Gly661=
ENST00000681519.1:c.864_867delinsCTCA	ENSP00000505267.1:p.Gly288=
ENST00000367397.1:c.126_129delinsCTCA	ENSP00000356367.1:p.Gly42=
ENST00000367399.6:c.1647_1650delinsCTCA	ENSP00000356369.2:p.Gly549=
ENST00000367400.7:c.1983_1986delinsCTCA	ENSP00000356370.3:p.Gly661=
ENST00000484075.5:c.1983_1986delinsCTCA	ENSP00000433932.1:p.Gly661=
ENST00000535699.5:c.1776_1779delinsCTCA	ENSP00000438786.1:p.Gly592=
ENST00000538660.5:c.1983_1986delinsCTCA	ENSP00000438091.1:p.Gly661=
NM_001193640.1:c.1647_1650delinsCTCA	NP_001180569.1:p.Gly549=
NM_001257965.1:c.1776_1779delinsCTCA	NP_001244894.1:p.Gly592=
NM_001257966.1:c.1983_1986delinsCTCA	NP_001244895.1:p.Gly661=
NM_201253.2:c.1983_1986delinsCTCA	NP_957705.1:p.Gly661=
NR_047563.1:n.1984_1987delinsCTCA
NR_047564.1:n.2192_2195delinsCTCA
XM_011509365.1:c.1983_1986delinsCTCA	XP_011507667.1:p.Gly661=
XM_011509366.1:c.1983_1986delinsCTCA	XP_011507668.1:p.Gly661=
XM_011509367.1:c.1983_1986delinsCTCA	XP_011507669.1:p.Gly661=
XM_011509368.1:c.1401_1404delinsCTCA	XP_011507670.1:p.Gly467=
XM_011509369.1:c.426_429delinsCTCA	XP_011507671.1:p.Gly142=
XM_011509365.2:c.1983_1986delinsCTCA	XP_011507667.1:p.Gly661=
XM_011509369.2:c.426_429delinsCTCA	XP_011507671.1:p.Gly142=
XM_017000851.1:c.1140_1143delinsCTCA	XP_016856340.1:p.Gly380=
XM_017000852.1:c.1983_1986delinsCTCA	XP_016856341.1:p.Gly661=
NM_201253.3:c.1983_1986delinsCTCA MANE Select	NP_957705.1:p.Gly661=
NM_001193640.2:c.1647_1650delinsCTCA	NP_001180569.1:p.Gly549=
NM_001257965.2:c.1776_1779delinsCTCA	NP_001244894.1:p.Gly592=
NR_047563.2:n.1936_1939delinsCTCA
NR_047564.2:n.2144_2147delinsCTCA
NM_001257966.2:c.1983_1986delinsCTCA	NP_001244895.1:p.Gly661=