Canonical Allele Identifier: CA528535416

Gene: CRB1

Linked Data

• dbSNP Id: rs1411531159
• gnomAD v2: 1-197398636-T-TCCTGTCCTGCC
• gnomAD v4: 1-197429506-T-TCCTGTCCTGCC
• MyVariant Identifiers: chr1:g.197398636_197398637insCCTGTCCTGCC (hg19) ; chr1:g.197429506_197429507insCCTGTCCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429508_197429518dup , CM000663.2:g.197429508_197429518dup	GRCh38
NC_000001.10:g.197398638_197398648dup , CM000663.1:g.197398638_197398648dup	GRCh37
NC_000001.9:g.195665261_195665271dup	NCBI36
NG_008483.1:g.166231_166241dup
NG_008483.2:g.233047_233057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2736_2746dup MANE Select	ENSP00000356370.3:p.Leu916ProfsTer?
ENST00000638467.1:c.2736_2746dup	ENSP00000491102.1:p.Leu916ProfsTer?
ENST00000681519.1:c.1617_1627dup	ENSP00000505267.1:p.Leu543ProfsTer?
ENST00000367397.1:c.879_889dup	ENSP00000356367.1:p.Leu297ProfsTer?
ENST00000367399.6:c.2400_2410dup	ENSP00000356369.2:p.Leu804ProfsTer?
ENST00000367400.7:c.2736_2746dup	ENSP00000356370.3:p.Leu916ProfsTer?
ENST00000484075.5:c.2736_2746dup	ENSP00000433932.1:p.Leu916ProfsTer?
ENST00000535699.5:c.2664_2674dup	ENSP00000438786.1:p.Leu892ProfsTer?
ENST00000538660.5:c.2129-6092_2129-6082dup	ENSP00000438091.1:n.2129-6092_2129-6082dup
NM_001193640.1:c.2400_2410dup	NP_001180569.1:p.Leu804ProfsTer?
NM_001257965.1:c.2664_2674dup	NP_001244894.1:p.Leu892ProfsTer?
NM_001257966.1:c.2129-6092_2129-6082dup	NP_001244895.1:n.2129-6092_2129-6082dup
NM_201253.2:c.2736_2746dup	NP_957705.1:p.Leu916ProfsTer?
NR_047563.1:n.2737_2747dup
NR_047564.1:n.2945_2955dup
XM_011509365.1:c.2736_2746dup	XP_011507667.1:p.Leu916ProfsTer?
XM_011509366.1:c.2736_2746dup	XP_011507668.1:p.Leu916ProfsTer?
XM_011509367.1:c.2736_2746dup	XP_011507669.1:p.Leu916ProfsTer?
XM_011509368.1:c.2154_2164dup	XP_011507670.1:p.Leu722ProfsTer?
XM_011509369.1:c.1179_1189dup	XP_011507671.1:p.Leu397ProfsTer?
XM_011509365.2:c.2736_2746dup	XP_011507667.1:p.Leu916ProfsTer?
XM_011509369.2:c.1179_1189dup	XP_011507671.1:p.Leu397ProfsTer?
XM_017000851.1:c.1893_1903dup	XP_016856340.1:p.Leu635ProfsTer?
XM_017000852.1:c.2871_2881dup	XP_016856341.1:p.Leu961ProfsTer?
NM_201253.3:c.2736_2746dup MANE Select	NP_957705.1:p.Leu916ProfsTer?
NM_001193640.2:c.2400_2410dup	NP_001180569.1:p.Leu804ProfsTer?
NM_001257965.2:c.2664_2674dup	NP_001244894.1:p.Leu892ProfsTer?
NR_047563.2:n.2689_2699dup
NR_047564.2:n.2897_2907dup
NM_001257966.2:c.2129-6092_2129-6082dup	NP_001244895.1:n.2129-6092_2129-6082dup