Canonical Allele Identifier: CA617836991
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1166009554
gnomAD v2: 15-48737348-TATATAC-T
gnomAD v3: 15-48445151-TATATAC-T
gnomAD v4: 15-48445151-TATATAC-T
MyVariant Identifiers: chr15:g.48737349_48737354del (hg19) chr15:g.48445152_48445157del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445157_48445162del , CM000677.2:g.48445157_48445162del GRCh38
NC_000015.9:g.48737354_48737359del , CM000677.1:g.48737354_48737359del GRCh37
NC_000015.8:g.46524646_46524651del NCBI36
NG_008805.2:g.205632_205637del , LRG_778:g.205632_205637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+219_5917+224del ENSP00000453958.2:n.5917+219_5917+224del
ENST00000674301.2:c.5917+219_5917+224del ENSP00000501333.2:n.5917+219_5917+224del
ENST00000684448.1:n.4591+219_4591+224del
ENST00000316623.10:c.5917+219_5917+224del MANE Select ENSP00000325527.5:n.5917+219_5917+224del
ENST00000674301.1:c.916+219_916+224del ENSP00000501333.1:n.916+219_916+224del
ENST00000316623.9:c.5917+219_5917+224del ENSP00000325527.5:n.5917+219_5917+224del
ENST00000537463.6:c.*1680+219_*1680+224del ENSP00000440294.2:n.*1680+219_*1680+224del
ENST00000559133.5:c.1224+219_1224+224del
ENST00000560820.1:n.37+219_37+224del
NM_000138.4:c.5917+219_5917+224del , LRG_778t1:c.5917+219_5917+224del NP_000129.3:n.5917+219_5917+224del
NM_000138.5:c.5917+219_5917+224del MANE Select NP_000129.3:n.5917+219_5917+224del
Search 100 bp 5'
Search 100 bp 3'