Canonical Allele Identifier: CA1218066319

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427826_197427830delinsGCCTA , CM000663.2:g.197427826_197427830delinsGCCTA	GRCh38
NC_000001.10:g.197396956_197396960delinsGCCTA , CM000663.1:g.197396956_197396960delinsGCCTA	GRCh37
NC_000001.9:g.195663579_195663583delinsGCCTA	NCBI36
NG_008483.1:g.164549_164553delinsGCCTA
NG_008483.2:g.231365_231369delinsGCCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2501_2505delinsGCCTA MANE Select	ENSP00000356370.3:p.Gly834=
ENST00000638467.1:c.2501_2505delinsGCCTA	ENSP00000491102.1:p.Gly834=
ENST00000681519.1:c.1382_1386delinsGCCTA	ENSP00000505267.1:p.Gly461=
ENST00000367397.1:c.644_648delinsGCCTA	ENSP00000356367.1:p.Gly215=
ENST00000367399.6:c.2165_2169delinsGCCTA	ENSP00000356369.2:p.Gly722=
ENST00000367400.7:c.2501_2505delinsGCCTA	ENSP00000356370.3:p.Gly834=
ENST00000480086.2:n.402_406delinsGCCTA
ENST00000484075.5:c.2501_2505delinsGCCTA	ENSP00000433932.1:p.Gly834=
ENST00000535699.5:c.2294_2298delinsGCCTA	ENSP00000438786.1:p.Gly765=
ENST00000538660.5:c.2128+5870_2128+5874delinsGCCTA	ENSP00000438091.1:n.2128+5870_2128+5874de...
NM_001193640.1:c.2165_2169delinsGCCTA	NP_001180569.1:p.Gly722=
NM_001257965.1:c.2294_2298delinsGCCTA	NP_001244894.1:p.Gly765=
NM_001257966.1:c.2128+5870_2128+5874delinsGCCTA	NP_001244895.1:n.2128+5870_2128+5874delin...
NM_201253.2:c.2501_2505delinsGCCTA	NP_957705.1:p.Gly834=
NR_047563.1:n.2502_2506delinsGCCTA
NR_047564.1:n.2710_2714delinsGCCTA
XM_011509365.1:c.2501_2505delinsGCCTA	XP_011507667.1:p.Gly834=
XM_011509366.1:c.2501_2505delinsGCCTA	XP_011507668.1:p.Gly834=
XM_011509367.1:c.2501_2505delinsGCCTA	XP_011507669.1:p.Gly834=
XM_011509368.1:c.1919_1923delinsGCCTA	XP_011507670.1:p.Gly640=
XM_011509369.1:c.944_948delinsGCCTA	XP_011507671.1:p.Gly315=
XM_011509365.2:c.2501_2505delinsGCCTA	XP_011507667.1:p.Gly834=
XM_011509369.2:c.944_948delinsGCCTA	XP_011507671.1:p.Gly315=
XM_017000851.1:c.1658_1662delinsGCCTA	XP_016856340.1:p.Gly553=
XM_017000852.1:c.2501_2505delinsGCCTA	XP_016856341.1:p.Gly834=
NM_201253.3:c.2501_2505delinsGCCTA MANE Select	NP_957705.1:p.Gly834=
NM_001193640.2:c.2165_2169delinsGCCTA	NP_001180569.1:p.Gly722=
NM_001257965.2:c.2294_2298delinsGCCTA	NP_001244894.1:p.Gly765=
NR_047563.2:n.2454_2458delinsGCCTA
NR_047564.2:n.2662_2666delinsGCCTA
NM_001257966.2:c.2128+5870_2128+5874delinsGCCTA	NP_001244895.1:n.2128+5870_2128+5874delin...