Canonical Allele Identifier: CA2831039338

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421120_197421123delinsGG , CM000663.2:g.197421120_197421123delinsGG	GRCh38
NC_000001.10:g.197390250_197390253delinsGG , CM000663.1:g.197390250_197390253delinsGG	GRCh37
NC_000001.9:g.195656873_195656876delinsGG	NCBI36
NG_008483.1:g.157843_157846delinsGG
NG_008483.2:g.224659_224662delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1292_1295delinsGG MANE Select	ENSP00000356370.3:p.Thr431ArgfsTer9
ENST00000638467.1:c.1292_1295delinsGG	ENSP00000491102.1:p.Thr431ArgfsTer9
ENST00000681519.1:c.173_176delinsGG	ENSP00000505267.1:p.Thr58ArgfsTer9
ENST00000367397.1:c.-566_-563delinsGG	ENSP00000356367.1:n.-566_-563delinsGG
ENST00000367399.6:c.956_959delinsGG	ENSP00000356369.2:p.Thr319ArgfsTer9
ENST00000367400.7:c.1292_1295delinsGG	ENSP00000356370.3:p.Thr431ArgfsTer9
ENST00000476483.1:n.252_255delinsGG
ENST00000484075.5:c.1292_1295delinsGG	ENSP00000433932.1:p.Thr431ArgfsTer9
ENST00000535699.5:c.1085_1088delinsGG	ENSP00000438786.1:p.Thr362ArgfsTer9
ENST00000538660.5:c.1292_1295delinsGG	ENSP00000438091.1:p.Thr431ArgfsTer9
NM_001193640.1:c.956_959delinsGG	NP_001180569.1:p.Thr319ArgfsTer9
NM_001257965.1:c.1085_1088delinsGG	NP_001244894.1:p.Thr362ArgfsTer9
NM_001257966.1:c.1292_1295delinsGG	NP_001244895.1:p.Thr431ArgfsTer9
NM_201253.2:c.1292_1295delinsGG	NP_957705.1:p.Thr431ArgfsTer9
NR_047563.1:n.1501_1504delinsGG
NR_047564.1:n.1501_1504delinsGG
XM_011509365.1:c.1292_1295delinsGG	XP_011507667.1:p.Thr431ArgfsTer9
XM_011509366.1:c.1292_1295delinsGG	XP_011507668.1:p.Thr431ArgfsTer9
XM_011509367.1:c.1292_1295delinsGG	XP_011507669.1:p.Thr431ArgfsTer9
XM_011509368.1:c.710_713delinsGG	XP_011507670.1:p.Thr237ArgfsTer9
XM_011509369.1:c.-266_-263delinsGG	XP_011507671.1:n.-266_-263delinsGG
XM_011509365.2:c.1292_1295delinsGG	XP_011507667.1:p.Thr431ArgfsTer9
XM_011509369.2:c.-266_-263delinsGG	XP_011507671.1:n.-266_-263delinsGG
XM_017000851.1:c.449_452delinsGG	XP_016856340.1:p.Thr150ArgfsTer9
XM_017000852.1:c.1292_1295delinsGG	XP_016856341.1:p.Thr431ArgfsTer9
NM_201253.3:c.1292_1295delinsGG MANE Select	NP_957705.1:p.Thr431ArgfsTer9
NM_001193640.2:c.956_959delinsGG	NP_001180569.1:p.Thr319ArgfsTer9
NM_001257965.2:c.1085_1088delinsGG	NP_001244894.1:p.Thr362ArgfsTer9
NR_047563.2:n.1453_1456delinsGG
NR_047564.2:n.1453_1456delinsGG
NM_001257966.2:c.1292_1295delinsGG	NP_001244895.1:p.Thr431ArgfsTer9