Canonical Allele Identifier: CA1218068727

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434942_197434943delinsCA , CM000663.2:g.197434942_197434943delinsCA	GRCh38
NC_000001.10:g.197404072_197404073delinsCA , CM000663.1:g.197404072_197404073delinsCA	GRCh37
NC_000001.9:g.195670695_195670696delinsCA	NCBI36
NG_008483.1:g.171665_171666delinsCA
NG_008483.2:g.238481_238482delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3079_3080delinsCA MANE Select	ENSP00000356370.3:p.Gln1027=
ENST00000638467.1:c.3079_3080delinsCA	ENSP00000491102.1:p.Gln1027=
ENST00000681519.1:c.1960_1961delinsCA	ENSP00000505267.1:p.Gln654=
ENST00000367397.1:c.1222_1223delinsCA	ENSP00000356367.1:p.Gln408=
ENST00000367399.6:c.2743_2744delinsCA	ENSP00000356369.2:p.Gln915=
ENST00000367400.7:c.3079_3080delinsCA	ENSP00000356370.3:p.Gln1027=
ENST00000484075.5:c.3079_3080delinsCA	ENSP00000433932.1:p.Gln1027=
ENST00000535699.5:c.3007_3008delinsCA	ENSP00000438786.1:p.Gln1003=
ENST00000538660.5:c.2129-658_2129-657delinsCA	ENSP00000438091.1:n.2129-658_2129-657delinsCA
NM_001193640.1:c.2743_2744delinsCA	NP_001180569.1:p.Gln915=
NM_001257965.1:c.3007_3008delinsCA	NP_001244894.1:p.Gln1003=
NM_001257966.1:c.2129-658_2129-657delinsCA	NP_001244895.1:n.2129-658_2129-657delinsCA
NM_201253.2:c.3079_3080delinsCA	NP_957705.1:p.Gln1027=
NR_047563.1:n.3080_3081delinsCA
NR_047564.1:n.3288_3289delinsCA
XM_011509365.1:c.3079_3080delinsCA	XP_011507667.1:p.Gln1027=
XM_011509366.1:c.3079_3080delinsCA	XP_011507668.1:p.Gln1027=
XM_011509367.1:c.3079_3080delinsCA	XP_011507669.1:p.Gln1027=
XM_011509368.1:c.2497_2498delinsCA	XP_011507670.1:p.Gln833=
XM_011509369.1:c.1522_1523delinsCA	XP_011507671.1:p.Gln508=
XM_011509365.2:c.3079_3080delinsCA	XP_011507667.1:p.Gln1027=
XM_011509369.2:c.1522_1523delinsCA	XP_011507671.1:p.Gln508=
XM_017000851.1:c.2236_2237delinsCA	XP_016856340.1:p.Gln746=
XM_017000852.1:c.3214_3215delinsCA	XP_016856341.1:p.Gln1072=
NM_201253.3:c.3079_3080delinsCA MANE Select	NP_957705.1:p.Gln1027=
NM_001193640.2:c.2743_2744delinsCA	NP_001180569.1:p.Gln915=
NM_001257965.2:c.3007_3008delinsCA	NP_001244894.1:p.Gln1003=
NR_047563.2:n.3032_3033delinsCA
NR_047564.2:n.3240_3241delinsCA
NM_001257966.2:c.2129-658_2129-657delinsCA	NP_001244895.1:n.2129-658_2129-657delinsCA