Canonical Allele Identifier: CA2747247634

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427692_197427693insACAC , CM000663.2:g.197427692_197427693insACAC	GRCh38
NC_000001.10:g.197396822_197396823insACAC , CM000663.1:g.197396822_197396823insACAC	GRCh37
NC_000001.9:g.195663445_195663446insACAC	NCBI36
NG_008483.1:g.164415_164416insACAC
NG_008483.2:g.231231_231232insACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2367_2368insACAC MANE Select	ENSP00000356370.3:p.Asp790ThrfsTer16
ENST00000638467.1:c.2367_2368insACAC	ENSP00000491102.1:p.Asp790ThrfsTer16
ENST00000681519.1:c.1248_1249insACAC	ENSP00000505267.1:p.Asp417ThrfsTer16
ENST00000367397.1:c.510_511insACAC	ENSP00000356367.1:p.Asp171ThrfsTer16
ENST00000367399.6:c.2031_2032insACAC	ENSP00000356369.2:p.Asp678ThrfsTer16
ENST00000367400.7:c.2367_2368insACAC	ENSP00000356370.3:p.Asp790ThrfsTer16
ENST00000480086.2:n.268_269insACAC
ENST00000484075.5:c.2367_2368insACAC	ENSP00000433932.1:p.Asp790ThrfsTer16
ENST00000535699.5:c.2160_2161insACAC	ENSP00000438786.1:p.Asp721ThrfsTer16
ENST00000538660.5:c.2128+5736_2128+5737insACAC	ENSP00000438091.1:n.2128+5736_2128+5737insACAC
NM_001193640.1:c.2031_2032insACAC	NP_001180569.1:p.Asp678ThrfsTer16
NM_001257965.1:c.2160_2161insACAC	NP_001244894.1:p.Asp721ThrfsTer16
NM_001257966.1:c.2128+5736_2128+5737insACAC	NP_001244895.1:n.2128+5736_2128+5737insACAC
NM_201253.2:c.2367_2368insACAC	NP_957705.1:p.Asp790ThrfsTer16
NR_047563.1:n.2368_2369insACAC
NR_047564.1:n.2576_2577insACAC
XM_011509365.1:c.2367_2368insACAC	XP_011507667.1:p.Asp790ThrfsTer16
XM_011509366.1:c.2367_2368insACAC	XP_011507668.1:p.Asp790ThrfsTer16
XM_011509367.1:c.2367_2368insACAC	XP_011507669.1:p.Asp790ThrfsTer16
XM_011509368.1:c.1785_1786insACAC	XP_011507670.1:p.Asp596ThrfsTer16
XM_011509369.1:c.810_811insACAC	XP_011507671.1:p.Asp271ThrfsTer16
XM_011509365.2:c.2367_2368insACAC	XP_011507667.1:p.Asp790ThrfsTer16
XM_011509369.2:c.810_811insACAC	XP_011507671.1:p.Asp271ThrfsTer16
XM_017000851.1:c.1524_1525insACAC	XP_016856340.1:p.Asp509ThrfsTer16
XM_017000852.1:c.2367_2368insACAC	XP_016856341.1:p.Asp790ThrfsTer16
NM_201253.3:c.2367_2368insACAC MANE Select	NP_957705.1:p.Asp790ThrfsTer16
NM_001193640.2:c.2031_2032insACAC	NP_001180569.1:p.Asp678ThrfsTer16
NM_001257965.2:c.2160_2161insACAC	NP_001244894.1:p.Asp721ThrfsTer16
NR_047563.2:n.2320_2321insACAC
NR_047564.2:n.2528_2529insACAC
NM_001257966.2:c.2128+5736_2128+5737insACAC	NP_001244895.1:n.2128+5736_2128+5737insACAC