Canonical Allele Identifier: CA618009267

Gene: FBN1

Linked Data

• dbSNP Id: rs1566909564
• gnomAD v2: 15-48779638-CA-C
• gnomAD v4: 15-48487441-CA-C
• MyVariant Identifiers: chr15:g.48779639del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487445del , CM000677.2:g.48487445del	GRCh38
NC_000015.9:g.48779642del , CM000677.1:g.48779642del	GRCh37
NC_000015.8:g.46566934del	NCBI36
NG_008805.2:g.163347del , LRG_778:g.163347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-5del	ENSP00000453958.2:n.3338-5del
ENST00000674301.2:c.3338-5del	ENSP00000501333.2:n.3338-5del
ENST00000684448.1:n.2012-5del
ENST00000316623.10:c.3338-5del MANE Select	ENSP00000325527.5:n.3338-5del
ENST00000316623.9:c.3338-5del	ENSP00000325527.5:n.3338-5del
ENST00000537463.6:c.637-12792del	ENSP00000440294.2:n.637-12792del
NM_000138.4:c.3338-5del , LRG_778t1:c.3338-5del	NP_000129.3:n.3338-5del
NM_000138.5:c.3338-5del MANE Select	NP_000129.3:n.3338-5del