Canonical Allele Identifier: CA2695199948

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2680975
• ClinVar RCV Id: RCV003475768

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421729del , CM000663.2:g.197421729del	GRCh38
NC_000001.10:g.197390859del , CM000663.1:g.197390859del	GRCh37
NC_000001.9:g.195657482del	NCBI36
NG_008483.1:g.158452del
NG_008483.2:g.225268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1901del MANE Select	ENSP00000356370.3:p.Pro634HisfsTer7
ENST00000638467.1:c.1901del	ENSP00000491102.1:p.Pro634HisfsTer7
ENST00000681519.1:c.782del	ENSP00000505267.1:p.Pro261HisfsTer7
ENST00000367397.1:c.44del	ENSP00000356367.1:p.Pro15HisfsTer7
ENST00000367399.6:c.1565del	ENSP00000356369.2:p.Pro522HisfsTer7
ENST00000367400.7:c.1901del	ENSP00000356370.3:p.Pro634HisfsTer7
ENST00000484075.5:c.1901del	ENSP00000433932.1:p.Pro634HisfsTer7
ENST00000535699.5:c.1694del	ENSP00000438786.1:p.Pro565HisfsTer7
ENST00000538660.5:c.1901del	ENSP00000438091.1:p.Pro634HisfsTer7
NM_001193640.1:c.1565del	NP_001180569.1:p.Pro522HisfsTer7
NM_001257965.1:c.1694del	NP_001244894.1:p.Pro565HisfsTer7
NM_001257966.1:c.1901del	NP_001244895.1:p.Pro634HisfsTer7
NM_201253.2:c.1901del	NP_957705.1:p.Pro634HisfsTer7
NR_047563.1:n.1923-21del
NR_047564.1:n.2110del
XM_011509365.1:c.1901del	XP_011507667.1:p.Pro634HisfsTer7
XM_011509366.1:c.1901del	XP_011507668.1:p.Pro634HisfsTer7
XM_011509367.1:c.1901del	XP_011507669.1:p.Pro634HisfsTer7
XM_011509368.1:c.1319del	XP_011507670.1:p.Pro440HisfsTer7
XM_011509369.1:c.344del	XP_011507671.1:p.Pro115HisfsTer7
XM_011509365.2:c.1901del	XP_011507667.1:p.Pro634HisfsTer7
XM_011509369.2:c.344del	XP_011507671.1:p.Pro115HisfsTer7
XM_017000851.1:c.1058del	XP_016856340.1:p.Pro353HisfsTer7
XM_017000852.1:c.1901del	XP_016856341.1:p.Pro634HisfsTer7
NM_201253.3:c.1901del MANE Select	NP_957705.1:p.Pro634HisfsTer7
NM_001193640.2:c.1565del	NP_001180569.1:p.Pro522HisfsTer7
NM_001257965.2:c.1694del	NP_001244894.1:p.Pro565HisfsTer7
NR_047563.2:n.1875-21del
NR_047564.2:n.2062del
NM_001257966.2:c.1901del	NP_001244895.1:p.Pro634HisfsTer7