Canonical Allele Identifier: CA120510
Gene: LBR HGNC NCBI

Linked Data

ClinVar Variation Id: 9529
ClinVar RCV Id: RCV000010137 RCV000087262
dbSNP Id: rs387906416
MyVariant Identifiers: chr1:g.225592188_225592194delinsCTTCTAG (hg19) chr1:g.225404486_225404492delinsCTTCTAG (hg38)
PubMed: PMID:12618959
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225404486_225404492delinsCTTCTAG , CM000663.2:g.225404486_225404492delinsCTTCTAG GRCh38
NC_000001.10:g.225592188_225592194delinsCTTCTAG , CM000663.1:g.225592188_225592194delinsCTTCTAG GRCh37
NC_000001.9:g.223658811_223658817delinsCTTCTAG NCBI36
NG_008099.1:g.29326_29332delinsCTAGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000272163.9:c.1599_1605delinsCTAGAAG MANE Select ENSP00000272163.4:p.Asn534Ter
ENST00000651341.1:c.*765_*771delinsCTAGAAG ENSP00000499114.1:n.*765_*771delinsCTAGAAG
ENST00000272163.8:c.1599_1605delinsCTAGAAG ENSP00000272163.4:p.Asn534Ter
ENST00000338179.6:c.1599_1605delinsCTAGAAG ENSP00000339883.2:p.Asn534Ter
ENST00000441022.1:n.74_80delinsCTAGAAG
NM_002296.3:c.1599_1605delinsCTAGAAG NP_002287.2:p.Asn534Ter
NM_194442.2:c.1599_1605delinsCTAGAAG NP_919424.1:p.Asn534Ter
XM_005273125.2:c.1473_1479delinsCTAGAAG XP_005273182.1:p.Asn492Ter
XM_011544185.1:c.1599_1605delinsCTAGAAG XP_011542487.1:p.Asn534Ter
XM_011544186.1:c.1518_1524delinsCTAGAAG XP_011542488.1:p.Asn507Ter
XM_005273125.3:c.1473_1479delinsCTAGAAG XP_005273182.1:p.Asn492Ter
XM_011544185.3:c.1599_1605delinsCTAGAAG XP_011542487.1:p.Asn534Ter
XR_001737168.2:n.1622_1628delinsCTAGAAG
NM_002296.4:c.1599_1605delinsCTAGAAG MANE Select NP_002287.2:p.Asn534Ter
NM_194442.3:c.1599_1605delinsCTAGAAG NP_919424.1:p.Asn534Ter
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