Canonical Allele Identifier: CA2740096647
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2921421
ClinVar RCV Id: RCV003780003
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48488485_48488488del , CM000677.2:g.48488485_48488488del GRCh38
NC_000015.9:g.48780682_48780685del , CM000677.1:g.48780682_48780685del GRCh37
NC_000015.8:g.46567974_46567977del NCBI36
NG_008805.2:g.162302_162305del , LRG_778:g.162302_162305del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3089_3092del ENSP00000453958.2:p.Asn1030SerfsTer4
ENST00000674301.2:c.3089_3092del ENSP00000501333.2:p.Asn1030SerfsTer4
ENST00000684448.1:n.1763_1766del
ENST00000316623.10:c.3089_3092del MANE Select ENSP00000325527.5:p.Asn1030SerfsTer4
ENST00000316623.9:c.3089_3092del ENSP00000325527.5:p.Asn1030SerfsTer4
ENST00000537463.6:c.637-13837_637-13834del ENSP00000440294.2:n.637-13837_637-13834del
NM_000138.4:c.3089_3092del , LRG_778t1:c.3089_3092del NP_000129.3:p.Asn1030SerfsTer4
NM_000138.5:c.3089_3092del MANE Select NP_000129.3:p.Asn1030SerfsTer4
Search 100 bp 5'
Search 100 bp 3'