Canonical Allele Identifier: CA1218063058

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421256_197421257delinsCG , CM000663.2:g.197421256_197421257delinsCG	GRCh38
NC_000001.10:g.197390386_197390387delinsCG , CM000663.1:g.197390386_197390387delinsCG	GRCh37
NC_000001.9:g.195657009_195657010delinsCG	NCBI36
NG_008483.1:g.157979_157980delinsCG
NG_008483.2:g.224795_224796delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1428_1429delinsCG MANE Select	ENSP00000356370.3:p.Thr476=
ENST00000638467.1:c.1428_1429delinsCG	ENSP00000491102.1:p.Thr476=
ENST00000681519.1:c.309_310delinsCG	ENSP00000505267.1:p.Thr103=
ENST00000367397.1:c.-430_-429delinsCG	ENSP00000356367.1:n.-430_-429delinsCG
ENST00000367399.6:c.1092_1093delinsCG	ENSP00000356369.2:p.Thr364=
ENST00000367400.7:c.1428_1429delinsCG	ENSP00000356370.3:p.Thr476=
ENST00000476483.1:n.388_389delinsCG
ENST00000484075.5:c.1428_1429delinsCG	ENSP00000433932.1:p.Thr476=
ENST00000535699.5:c.1221_1222delinsCG	ENSP00000438786.1:p.Thr407=
ENST00000538660.5:c.1428_1429delinsCG	ENSP00000438091.1:p.Thr476=
NM_001193640.1:c.1092_1093delinsCG	NP_001180569.1:p.Thr364=
NM_001257965.1:c.1221_1222delinsCG	NP_001244894.1:p.Thr407=
NM_001257966.1:c.1428_1429delinsCG	NP_001244895.1:p.Thr476=
NM_201253.2:c.1428_1429delinsCG	NP_957705.1:p.Thr476=
NR_047563.1:n.1637_1638delinsCG
NR_047564.1:n.1637_1638delinsCG
XM_011509365.1:c.1428_1429delinsCG	XP_011507667.1:p.Thr476=
XM_011509366.1:c.1428_1429delinsCG	XP_011507668.1:p.Thr476=
XM_011509367.1:c.1428_1429delinsCG	XP_011507669.1:p.Thr476=
XM_011509368.1:c.846_847delinsCG	XP_011507670.1:p.Thr282=
XM_011509369.1:c.-130_-129delinsCG	XP_011507671.1:n.-130_-129delinsCG
XM_011509365.2:c.1428_1429delinsCG	XP_011507667.1:p.Thr476=
XM_011509369.2:c.-130_-129delinsCG	XP_011507671.1:n.-130_-129delinsCG
XM_017000851.1:c.585_586delinsCG	XP_016856340.1:p.Thr195=
XM_017000852.1:c.1428_1429delinsCG	XP_016856341.1:p.Thr476=
NM_201253.3:c.1428_1429delinsCG MANE Select	NP_957705.1:p.Thr476=
NM_001193640.2:c.1092_1093delinsCG	NP_001180569.1:p.Thr364=
NM_001257965.2:c.1221_1222delinsCG	NP_001244894.1:p.Thr407=
NR_047563.2:n.1589_1590delinsCG
NR_047564.2:n.1589_1590delinsCG
NM_001257966.2:c.1428_1429delinsCG	NP_001244895.1:p.Thr476=