Canonical Allele Identifier: CA2175513200
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043145128
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445168_48445183del , CM000677.2:g.48445168_48445183del GRCh38
NC_000015.9:g.48737365_48737380del , CM000677.1:g.48737365_48737380del GRCh37
NC_000015.8:g.46524657_46524672del NCBI36
NG_008805.2:g.205618_205633del , LRG_778:g.205618_205633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+205_5917+220del ENSP00000453958.2:n.5917+205_5917+220del
ENST00000674301.2:c.5917+205_5917+220del ENSP00000501333.2:n.5917+205_5917+220del
ENST00000684448.1:n.4591+205_4591+220del
ENST00000316623.10:c.5917+205_5917+220del MANE Select ENSP00000325527.5:n.5917+205_5917+220del
ENST00000674301.1:c.916+205_916+220del ENSP00000501333.1:n.916+205_916+220del
ENST00000316623.9:c.5917+205_5917+220del ENSP00000325527.5:n.5917+205_5917+220del
ENST00000537463.6:c.*1680+205_*1680+220del ENSP00000440294.2:n.*1680+205_*1680+220del
ENST00000559133.5:c.1224+205_1224+220del
ENST00000560820.1:n.37+205_37+220del
NM_000138.4:c.5917+205_5917+220del , LRG_778t1:c.5917+205_5917+220del NP_000129.3:n.5917+205_5917+220del
NM_000138.5:c.5917+205_5917+220del MANE Select NP_000129.3:n.5917+205_5917+220del
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