Canonical Allele Identifier: CA2573131441

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1514726
• ClinVar RCV Id: RCV002029507 ; RCV003324582 ; RCV003453969 ; RCV003453970 ; RCV003453971
• dbSNP Id: rs2125471114

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421666_197421668dup , CM000663.2:g.197421666_197421668dup	GRCh38
NC_000001.10:g.197390796_197390798dup , CM000663.1:g.197390796_197390798dup	GRCh37
NC_000001.9:g.195657419_195657421dup	NCBI36
NG_008483.1:g.158389_158391dup
NG_008483.2:g.225205_225207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1838_1840dup MANE Select	ENSP00000356370.3:p.Leu613_Gly614insVal
ENST00000638467.1:c.1838_1840dup	ENSP00000491102.1:p.Leu613_Gly614insVal
ENST00000681519.1:c.719_721dup	ENSP00000505267.1:p.Leu240_Gly241insVal
ENST00000367397.1:c.-20_-18dup	ENSP00000356367.1:n.-20_-18dup
ENST00000367399.6:c.1502_1504dup	ENSP00000356369.2:p.Leu501_Gly502insVal
ENST00000367400.7:c.1838_1840dup	ENSP00000356370.3:p.Leu613_Gly614insVal
ENST00000484075.5:c.1838_1840dup	ENSP00000433932.1:p.Leu613_Gly614insVal
ENST00000535699.5:c.1631_1633dup	ENSP00000438786.1:p.Leu544_Gly545insVal
ENST00000538660.5:c.1838_1840dup	ENSP00000438091.1:p.Leu613_Gly614insVal
NM_001193640.1:c.1502_1504dup	NP_001180569.1:p.Leu501_Gly502insVal
NM_001257965.1:c.1631_1633dup	NP_001244894.1:p.Leu544_Gly545insVal
NM_001257966.1:c.1838_1840dup	NP_001244895.1:p.Leu613_Gly614insVal
NM_201253.2:c.1838_1840dup	NP_957705.1:p.Leu613_Gly614insVal
NR_047563.1:n.1923-84_1923-82dup
NR_047564.1:n.2047_2049dup
XM_011509365.1:c.1838_1840dup	XP_011507667.1:p.Leu613_Gly614insVal
XM_011509366.1:c.1838_1840dup	XP_011507668.1:p.Leu613_Gly614insVal
XM_011509367.1:c.1838_1840dup	XP_011507669.1:p.Leu613_Gly614insVal
XM_011509368.1:c.1256_1258dup	XP_011507670.1:p.Leu419_Gly420insVal
XM_011509369.1:c.281_283dup	XP_011507671.1:p.Leu94_Gly95insVal
XM_011509365.2:c.1838_1840dup	XP_011507667.1:p.Leu613_Gly614insVal
XM_011509369.2:c.281_283dup	XP_011507671.1:p.Leu94_Gly95insVal
XM_017000851.1:c.995_997dup	XP_016856340.1:p.Leu332_Gly333insVal
XM_017000852.1:c.1838_1840dup	XP_016856341.1:p.Leu613_Gly614insVal
NM_201253.3:c.1838_1840dup MANE Select	NP_957705.1:p.Leu613_Gly614insVal
NM_001193640.2:c.1502_1504dup	NP_001180569.1:p.Leu501_Gly502insVal
NM_001257965.2:c.1631_1633dup	NP_001244894.1:p.Leu544_Gly545insVal
NR_047563.2:n.1875-84_1875-82dup
NR_047564.2:n.1999_2001dup
NM_001257966.2:c.1838_1840dup	NP_001244895.1:p.Leu613_Gly614insVal