Canonical Allele Identifier: CA014303

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36070
• ClinVar RCV Id: RCV000586337
• dbSNP Id: rs72132658
• gnomAD v2: 15-48779200-AATAACATAAC-A
• gnomAD v3: 15-48487003-AATAACATAAC-A
• gnomAD v4: 15-48487003-AATAACATAAC-A
• MyVariant Identifiers: chr15:g.48779201_48779210del (hg19) ; chr15:g.48487004_48487013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487018_48487027del , CM000677.2:g.48487018_48487027del	GRCh38
NC_000015.9:g.48779215_48779224del , CM000677.1:g.48779215_48779224del	GRCh37
NC_000015.8:g.46566507_46566516del	NCBI36
NG_008805.2:g.163776_163785del , LRG_778:g.163776_163785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+62_3589+71del	ENSP00000453958.2:n.3589+62_3589+71del
ENST00000674301.2:c.3589+62_3589+71del	ENSP00000501333.2:n.3589+62_3589+71del
ENST00000684448.1:n.2263+62_2263+71del
ENST00000316623.10:c.3589+62_3589+71del MANE Select	ENSP00000325527.5:n.3589+62_3589+71del
ENST00000316623.9:c.3589+62_3589+71del	ENSP00000325527.5:n.3589+62_3589+71del
ENST00000537463.6:c.637-12363_637-12354del	ENSP00000440294.2:n.637-12363_637-12354del
NM_000138.4:c.3589+62_3589+71del , LRG_778t1:c.3589+62_3589+71del	NP_000129.3:n.3589+62_3589+71del
NM_000138.5:c.3589+62_3589+71del MANE Select	NP_000129.3:n.3589+62_3589+71del