Canonical Allele Identifier: CA2838032886
Community Standard Title: NM_201253.3(CRB1):c.1405_1410delinsGGCCTG (p.Cys469Gly)
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421233_197421238delinsGGCCTG , CM000663.2:g.197421233_197421238delinsGGCCTG GRCh38
NC_000001.10:g.197390363_197390368delinsGGCCTG , CM000663.1:g.197390363_197390368delinsGGCCTG GRCh37
NC_000001.9:g.195656986_195656991delinsGGCCTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_201253.3:c.1405_1410delinsGGCCTG MANE Select NP_957705.1:p.Cys469Gly
ENST00000367400.8:c.1405_1410delinsGGCCTG MANE Select ENSP00000356370.3:p.Cys469Gly
NM_001193640.2:c.1069_1074delinsGGCCTG NP_001180569.1:p.Cys357Gly
NM_001257965.2:c.1198_1203delinsGGCCTG NP_001244894.1:p.Cys400Gly
NM_001257966.2:c.1405_1410delinsGGCCTG NP_001244895.1:p.Cys469Gly
NR_047563.2:n.1566_1571delinsGGCCTG
NR_047564.2:n.1566_1571delinsGGCCTG
ENST00000367397.1:c.-453_-448delinsGGCCTG ENSP00000356367.1:n.-453_-448delinsGGCCTG
ENST00000367399.6:c.1069_1074delinsGGCCTG ENSP00000356369.2:p.Cys357Gly
ENST00000367400.7:c.1405_1410delinsGGCCTG ENSP00000356370.3:p.Cys469Gly
ENST00000476483.1:n.365_370delinsGGCCTG
ENST00000484075.5:c.1405_1410delinsGGCCTG ENSP00000433932.1:p.Cys469Gly
ENST00000535699.5:c.1198_1203delinsGGCCTG ENSP00000438786.1:p.Cys400Gly
ENST00000538660.5:c.1405_1410delinsGGCCTG ENSP00000438091.1:p.Cys469Gly
ENST00000638467.1:c.1405_1410delinsGGCCTG ENSP00000491102.1:p.Cys469Gly
ENST00000681519.1:c.286_291delinsGGCCTG ENSP00000505267.1:p.Cys96Gly
XM_011509365.1:c.1405_1410delinsGGCCTG XP_011507667.1:p.Cys469Gly
XM_011509365.2:c.1405_1410delinsGGCCTG XP_011507667.1:p.Cys469Gly
XM_011509366.1:c.1405_1410delinsGGCCTG XP_011507668.1:p.Cys469Gly
XM_011509367.1:c.1405_1410delinsGGCCTG XP_011507669.1:p.Cys469Gly
XM_011509368.1:c.823_828delinsGGCCTG XP_011507670.1:p.Cys275Gly
XM_011509369.1:c.-153_-148delinsGGCCTG XP_011507671.1:n.-153_-148delinsGGCCTG
XM_011509369.2:c.-153_-148delinsGGCCTG XP_011507671.1:n.-153_-148delinsGGCCTG
XM_017000851.1:c.562_567delinsGGCCTG XP_016856340.1:p.Cys188Gly
XM_017000852.1:c.1405_1410delinsGGCCTG XP_016856341.1:p.Cys469Gly