Canonical Allele Identifier: CA713403396

Gene: FBN1

Linked Data

• dbSNP Id: rs1426459733
• MyVariant Identifiers: chr15:g.48737331_48737334del (hg19) ; chr15:g.48445134_48445137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445135_48445138del , CM000677.2:g.48445135_48445138del	GRCh38
NC_000015.9:g.48737332_48737335del , CM000677.1:g.48737332_48737335del	GRCh37
NC_000015.8:g.46524624_46524627del	NCBI36
NG_008805.2:g.205652_205655del , LRG_778:g.205652_205655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+239_5917+242del	ENSP00000453958.2:n.5917+239_5917+242del
ENST00000674301.2:c.5917+239_5917+242del	ENSP00000501333.2:n.5917+239_5917+242del
ENST00000684448.1:n.4591+239_4591+242del
ENST00000316623.10:c.5917+239_5917+242del MANE Select	ENSP00000325527.5:n.5917+239_5917+242del
ENST00000674301.1:c.916+239_916+242del	ENSP00000501333.1:n.916+239_916+242del
ENST00000316623.9:c.5917+239_5917+242del	ENSP00000325527.5:n.5917+239_5917+242del
ENST00000537463.6:c.*1680+239_*1680+242del	ENSP00000440294.2:n.*1680+239_*1680+242del
ENST00000559133.5:c.1224+239_1224+242del
ENST00000560820.1:n.37+239_37+242del
NM_000138.4:c.5917+239_5917+242del , LRG_778t1:c.5917+239_5917+242del	NP_000129.3:n.5917+239_5917+242del
NM_000138.5:c.5917+239_5917+242del MANE Select	NP_000129.3:n.5917+239_5917+242del