Canonical Allele Identifier: CA919548666
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1597548899
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468262_48468263insTTT , CM000677.2:g.48468262_48468263insTTT GRCh38
NC_000015.9:g.48760459_48760460insTTT , CM000677.1:g.48760459_48760460insTTT GRCh37
NC_000015.8:g.46547751_46547752insTTT NCBI36
NG_008805.2:g.182527_182528insAAA , LRG_778:g.182527_182528insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4582+150_4582+151insAAA ENSP00000453958.2:n.4582+150_4582+151insAAA
ENST00000674301.2:c.4582+150_4582+151insAAA ENSP00000501333.2:n.4582+150_4582+151insAAA
ENST00000684448.1:n.3256+150_3256+151insAAA
ENST00000316623.10:c.4582+150_4582+151insAAA MANE Select ENSP00000325527.5:n.4582+150_4582+151insAAA
ENST00000316623.9:c.4582+150_4582+151insAAA ENSP00000325527.5:n.4582+150_4582+151insAAA
ENST00000537463.6:c.*345+150_*345+151insAAA ENSP00000440294.2:n.*345+150_*345+151insAAA
NM_000138.4:c.4582+150_4582+151insAAA , LRG_778t1:c.4582+150_4582+151insAAA NP_000129.3:n.4582+150_4582+151insAAA
NM_000138.5:c.4582+150_4582+151insAAA MANE Select NP_000129.3:n.4582+150_4582+151insAAA
Search 100 bp 5'
Search 100 bp 3'