Canonical Allele Identifier: CA228014
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419132
ClinVar RCV Id: RCV000481076 RCV001856828 RCV003449183 RCV003449182 RCV001833607
dbSNP Id: rs62636260
gnomAD v2: 1-197297733-T-TTG
gnomAD v4: 1-197328603-T-TTG
MyVariant Identifiers: chr1:g.197297737_197297738dupGT (hg19) chr1:g.197297733_197297734insTG (hg19) chr1:g.197328607_197328608dupGT (hg38) chr1:g.197328603_197328604insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197328608_197328609dup , CM000663.2:g.197328608_197328609dup GRCh38
NC_000001.10:g.197297738_197297739dup , CM000663.1:g.197297738_197297739dup GRCh37
NC_000001.9:g.195564361_195564362dup NCBI36
NG_008483.1:g.65331_65332dup
NG_008483.2:g.132147_132148dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.257_258dup MANE Select ENSP00000356370.3:p.Asn87Ter
ENST00000638467.1:c.257_258dup ENSP00000491102.1:p.Asn87Ter
ENST00000367399.6:c.257_258dup ENSP00000356369.2:p.Asn87Ter
ENST00000367400.7:c.257_258dup ENSP00000356370.3:p.Asn87Ter
ENST00000475659.1:n.394_395dup
ENST00000484075.5:c.257_258dup ENSP00000433932.1:p.Asn87Ter
ENST00000535699.5:c.50_51dup ENSP00000438786.1:p.Asn18Ter
ENST00000538660.5:c.257_258dup ENSP00000438091.1:p.Asn87Ter
NM_001193640.1:c.257_258dup NP_001180569.1:p.Asn87Ter
NM_001257965.1:c.50_51dup NP_001244894.1:p.Asn18Ter
NM_001257966.1:c.257_258dup NP_001244895.1:p.Asn87Ter
NM_201253.2:c.257_258dup NP_957705.1:p.Asn87Ter
NR_047563.1:n.466_467dup
NR_047564.1:n.466_467dup
XM_011509365.1:c.257_258dup XP_011507667.1:p.Asn87Ter
XM_011509366.1:c.257_258dup XP_011507668.1:p.Asn87Ter
XM_011509367.1:c.257_258dup XP_011507669.1:p.Asn87Ter
XM_011509368.1:c.71-15673_71-15672dup XP_011507670.1:n.71-15673_71-15672dup
XM_011509365.2:c.257_258dup XP_011507667.1:p.Asn87Ter
XM_017000851.1:c.-447_-446dup XP_016856340.1:n.-447_-446dup
XM_017000852.1:c.257_258dup XP_016856341.1:p.Asn87Ter
NM_201253.3:c.257_258dup MANE Select NP_957705.1:p.Asn87Ter
NM_001193640.2:c.257_258dup NP_001180569.1:p.Asn87Ter
NM_001257965.2:c.50_51dup NP_001244894.1:p.Asn18Ter
NR_047563.2:n.418_419dup
NR_047564.2:n.418_419dup
NM_001257966.2:c.257_258dup NP_001244895.1:p.Asn87Ter
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