Canonical Allele Identifier: CA2175513900

Gene: FBN1

Linked Data

• dbSNP Id: rs2043512732
• gnomAD v4: 15-48487018-CATAACATAAAATAAAGTAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487023_48487042del , CM000677.2:g.48487023_48487042del	GRCh38
NC_000015.9:g.48779220_48779239del , CM000677.1:g.48779220_48779239del	GRCh37
NC_000015.8:g.46566512_46566531del	NCBI36
NG_008805.2:g.163751_163770del , LRG_778:g.163751_163770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+37_3589+56del	ENSP00000453958.2:n.3589+37_3589+56del
ENST00000674301.2:c.3589+37_3589+56del	ENSP00000501333.2:n.3589+37_3589+56del
ENST00000684448.1:n.2263+37_2263+56del
ENST00000316623.10:c.3589+37_3589+56del MANE Select	ENSP00000325527.5:n.3589+37_3589+56del
ENST00000316623.9:c.3589+37_3589+56del	ENSP00000325527.5:n.3589+37_3589+56del
ENST00000537463.6:c.637-12388_637-12369del	ENSP00000440294.2:n.637-12388_637-12369del
NM_000138.4:c.3589+37_3589+56del , LRG_778t1:c.3589+37_3589+56del	NP_000129.3:n.3589+37_3589+56del
NM_000138.5:c.3589+37_3589+56del MANE Select	NP_000129.3:n.3589+37_3589+56del