Canonical Allele Identifier: CA617835920

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1244928
• ClinVar RCV Id: RCV001649136
• dbSNP Id: rs1170123917
• gnomAD v2: 15-48779183-GAAATA-G
• gnomAD v3: 15-48486986-GAAATA-G
• gnomAD v4: 15-48486986-GAAATA-G
• MyVariant Identifiers: chr15:g.48779184_48779188del (hg19) ; chr15:g.48486987_48486991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487003_48487007del , CM000677.2:g.48487003_48487007del	GRCh38
NC_000015.9:g.48779200_48779204del , CM000677.1:g.48779200_48779204del	GRCh37
NC_000015.8:g.46566492_46566496del	NCBI36
NG_008805.2:g.163798_163802del , LRG_778:g.163798_163802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+84_3589+88del	ENSP00000453958.2:n.3589+84_3589+88del
ENST00000674301.2:c.3589+84_3589+88del	ENSP00000501333.2:n.3589+84_3589+88del
ENST00000684448.1:n.2263+84_2263+88del
ENST00000316623.10:c.3589+84_3589+88del MANE Select	ENSP00000325527.5:n.3589+84_3589+88del
ENST00000316623.9:c.3589+84_3589+88del	ENSP00000325527.5:n.3589+84_3589+88del
ENST00000537463.6:c.637-12341_637-12337del	ENSP00000440294.2:n.637-12341_637-12337del
NM_000138.4:c.3589+84_3589+88del , LRG_778t1:c.3589+84_3589+88del	NP_000129.3:n.3589+84_3589+88del
NM_000138.5:c.3589+84_3589+88del MANE Select	NP_000129.3:n.3589+84_3589+88del