Canonical Allele Identifier: CA913188649
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919912
ClinVar RCV Id: RCV001178380 RCV003769926
dbSNP Id: rs2043498514
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485480_48485481delinsAA , CM000677.2:g.48485480_48485481delinsAA GRCh38
NC_000015.9:g.48777677_48777678delinsAA , CM000677.1:g.48777677_48777678delinsAA GRCh37
NC_000015.8:g.46564969_46564970delinsAA NCBI36
NG_008805.2:g.165308_165309delinsTT , LRG_778:g.165308_165309delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3605_3606delinsTT ENSP00000453958.2:p.Ser1202Ile
ENST00000674301.2:c.3605_3606delinsTT ENSP00000501333.2:p.Ser1202Ile
ENST00000684448.1:n.2279_2280delinsTT
ENST00000316623.10:c.3605_3606delinsTT MANE Select ENSP00000325527.5:p.Ser1202Ile
ENST00000316623.9:c.3605_3606delinsTT ENSP00000325527.5:p.Ser1202Ile
ENST00000537463.6:c.637-10831_637-10830delinsTT ENSP00000440294.2:n.637-10831_637-10830delinsTT
NM_000138.4:c.3605_3606delinsTT , LRG_778t1:c.3605_3606delinsTT NP_000129.3:p.Ser1202Ile
NM_000138.5:c.3605_3606delinsTT MANE Select NP_000129.3:p.Ser1202Ile
Search 100 bp 5'
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