Canonical Allele Identifier: CA16614828
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406278
dbSNP Id: rs1060501027

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503871_48503872insT , CM000677.2:g.48503871_48503872insT GRCh38
NC_000015.9:g.48796068_48796069insT , CM000677.1:g.48796068_48796069insT GRCh37
NC_000015.8:g.46583360_46583361insT NCBI36
NG_008805.2:g.146917_146918insA , LRG_778:g.146917_146918insA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2028_2029insA ENSP00000453958.2:p.Ala677SerfsTer4
ENST00000674301.2:c.2028_2029insA ENSP00000501333.2:p.Ala677SerfsTer4
ENST00000684448.1:n.702_703insA
ENST00000316623.10:c.2028_2029insA MANE Select ENSP00000325527.5:p.Ala677SerfsTer4
ENST00000316623.9:c.2028_2029insA ENSP00000325527.5:p.Ala677SerfsTer4
ENST00000537463.6:c.637-29222_637-29221insA ENSP00000440294.2:n.637-29222_637-29221in...
NM_000138.4:c.2028_2029insA , LRG_778t1:c.2028_2029insA NP_000129.3:p.Ala677SerfsTer4
NM_000138.5:c.2028_2029insA MANE Select NP_000129.3:p.Ala677SerfsTer4