Canonical Allele Identifier: CA2175513356
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043146191
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445184_48445205del , CM000677.2:g.48445184_48445205del GRCh38
NC_000015.9:g.48737381_48737402del , CM000677.1:g.48737381_48737402del GRCh37
NC_000015.8:g.46524673_46524694del NCBI36
NG_008805.2:g.205592_205613del , LRG_778:g.205592_205613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+179_5917+200del ENSP00000453958.2:n.5917+179_5917+200del
ENST00000674301.2:c.5917+179_5917+200del ENSP00000501333.2:n.5917+179_5917+200del
ENST00000684448.1:n.4591+179_4591+200del
ENST00000316623.10:c.5917+179_5917+200del MANE Select ENSP00000325527.5:n.5917+179_5917+200del
ENST00000674301.1:c.916+179_916+200del ENSP00000501333.1:n.916+179_916+200del
ENST00000316623.9:c.5917+179_5917+200del ENSP00000325527.5:n.5917+179_5917+200del
ENST00000537463.6:c.*1680+179_*1680+200del ENSP00000440294.2:n.*1680+179_*1680+200del
ENST00000559133.5:c.1224+179_1224+200del
ENST00000560820.1:n.37+179_37+200del
NM_000138.4:c.5917+179_5917+200del , LRG_778t1:c.5917+179_5917+200del NP_000129.3:n.5917+179_5917+200del
NM_000138.5:c.5917+179_5917+200del MANE Select NP_000129.3:n.5917+179_5917+200del
Search 100 bp 5'
Search 100 bp 3'