Canonical Allele Identifier: CA617942678

Gene: FBN1

Linked Data

• dbSNP Id: rs1172111856
• gnomAD v2: 15-48903140-TG-T
• gnomAD v3: 15-48610943-TG-T
• gnomAD v4: 15-48610943-TG-T
• MyVariant Identifiers: chr15:g.48903141del (hg19) ; chr15:g.48610944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610944del , CM000677.2:g.48610944del	GRCh38
NC_000015.9:g.48903141del , CM000677.1:g.48903141del	GRCh37
NC_000015.8:g.46690433del	NCBI36
NG_008805.2:g.39845del , LRG_778:g.39845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-118del	ENSP00000453958.2:n.248-118del
ENST00000674301.2:c.248-118del	ENSP00000501333.2:n.248-118del
ENST00000316623.10:c.248-118del MANE Select	ENSP00000325527.5:n.248-118del
ENST00000316623.9:c.248-118del	ENSP00000325527.5:n.248-118del
ENST00000537463.6:c.248-118del	ENSP00000440294.2:n.248-118del
NM_000138.4:c.248-118del , LRG_778t1:c.248-118del	NP_000129.3:n.248-118del
NM_000138.5:c.248-118del MANE Select	NP_000129.3:n.248-118del