Canonical Allele Identifier: CA2175513342

Gene: FBN1

Linked Data

• dbSNP Id: rs2043145930

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445184_48445195del , CM000677.2:g.48445184_48445195del	GRCh38
NC_000015.9:g.48737381_48737392del , CM000677.1:g.48737381_48737392del	GRCh37
NC_000015.8:g.46524673_46524684del	NCBI36
NG_008805.2:g.205604_205615del , LRG_778:g.205604_205615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+191_5917+202del	ENSP00000453958.2:n.5917+191_5917+202del
ENST00000674301.2:c.5917+191_5917+202del	ENSP00000501333.2:n.5917+191_5917+202del
ENST00000684448.1:n.4591+191_4591+202del
ENST00000316623.10:c.5917+191_5917+202del MANE Select	ENSP00000325527.5:n.5917+191_5917+202del
ENST00000674301.1:c.916+191_916+202del	ENSP00000501333.1:n.916+191_916+202del
ENST00000316623.9:c.5917+191_5917+202del	ENSP00000325527.5:n.5917+191_5917+202del
ENST00000537463.6:c.*1680+191_*1680+202del	ENSP00000440294.2:n.*1680+191_*1680+202del
ENST00000559133.5:c.1224+191_1224+202del
ENST00000560820.1:n.37+191_37+202del
NM_000138.4:c.5917+191_5917+202del , LRG_778t1:c.5917+191_5917+202del	NP_000129.3:n.5917+191_5917+202del
NM_000138.5:c.5917+191_5917+202del MANE Select	NP_000129.3:n.5917+191_5917+202del