Canonical Allele Identifier: CA017652
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179129
ClinVar RCV Id: RCV000155914
dbSNP Id: rs727504651
MyVariant Identifiers: chr15:g.48703537_48703538delinsTCCT (hg19) chr15:g.48411340_48411341delinsTCCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411340_48411341delinsTCCT , CM000677.2:g.48411340_48411341delinsTCCT GRCh38
NC_000015.9:g.48703537_48703538delinsTCCT , CM000677.1:g.48703537_48703538delinsTCCT GRCh37
NC_000015.8:g.46490829_46490830delinsTCCT NCBI36
NG_008805.2:g.239448_239449delinsAGGA , LRG_778:g.239448_239449delinsAGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1073_*1074delinsAGGA ENSP00000453958.2:n.*1073_*1074delinsAGGA...
ENST00000674301.2:c.*1778_*1779delinsAGGA ENSP00000501333.2:n.*1778_*1779delinsAGGA...
ENST00000682158.1:n.1646_1647delinsAGGA
ENST00000682170.1:n.2446_2447delinsAGGA
ENST00000682767.1:n.1562_1563delinsAGGA
ENST00000316623.10:c.8265_8266delinsAGGA MANE Select ENSP00000325527.5:p.Ser2755ArgfsTer25
ENST00000674301.1:c.3431_3432delinsAGGA ENSP00000501333.1:n.3431_3432delinsAGGA
ENST00000316623.9:c.8265_8266delinsAGGA ENSP00000325527.5:p.Ser2755ArgfsTer25
ENST00000559133.5:c.3634_3635delinsAGGA
ENST00000561429.1:n.520_521delinsAGGA
NM_000138.4:c.8265_8266delinsAGGA , LRG_778t1:c.8265_8266delinsAGGA NP_000129.3:p.Ser2755ArgfsTer25
NM_000138.5:c.8265_8266delinsAGGA MANE Select NP_000129.3:p.Ser2755ArgfsTer25
Search 100 bp 5'
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