Canonical Allele Identifier: CA617835727

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2160172
• ClinVar RCV Id: RCV003086133
• dbSNP Id: rs1372563342
• gnomAD v2: 15-48777707-AAAT-A
• gnomAD v4: 15-48485510-AAAT-A
• MyVariant Identifiers: chr15:g.48777708_48777710del (hg19) ; chr15:g.48485511_48485513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485515_48485517del , CM000677.2:g.48485515_48485517del	GRCh38
NC_000015.9:g.48777712_48777714del , CM000677.1:g.48777712_48777714del	GRCh37
NC_000015.8:g.46565004_46565006del	NCBI36
NG_008805.2:g.165276_165278del , LRG_778:g.165276_165278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3590-17_3590-15del	ENSP00000453958.2:n.3590-17_3590-15del
ENST00000674301.2:c.3590-17_3590-15del	ENSP00000501333.2:n.3590-17_3590-15del
ENST00000684448.1:n.2264-17_2264-15del
ENST00000316623.10:c.3590-17_3590-15del MANE Select	ENSP00000325527.5:n.3590-17_3590-15del
ENST00000316623.9:c.3590-17_3590-15del	ENSP00000325527.5:n.3590-17_3590-15del
ENST00000537463.6:c.637-10863_637-10861del	ENSP00000440294.2:n.637-10863_637-10861del
NM_000138.4:c.3590-17_3590-15del , LRG_778t1:c.3590-17_3590-15del	NP_000129.3:n.3590-17_3590-15del
NM_000138.5:c.3590-17_3590-15del MANE Select	NP_000129.3:n.3590-17_3590-15del