Canonical Allele Identifier: CA713409085

Gene: FBN1

Linked Data

• dbSNP Id: rs1284745356
• gnomAD v3: 15-48468281-TA-T
• gnomAD v4: 15-48468281-TA-T
• MyVariant Identifiers: chr15:g.48760479del (hg19) ; chr15:g.48468282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468284del , CM000677.2:g.48468284del	GRCh38
NC_000015.9:g.48760481del , CM000677.1:g.48760481del	GRCh37
NC_000015.8:g.46547773del	NCBI36
NG_008805.2:g.182507del , LRG_778:g.182507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4582+130del	ENSP00000453958.2:n.4582+130del
ENST00000674301.2:c.4582+130del	ENSP00000501333.2:n.4582+130del
ENST00000684448.1:n.3256+130del
ENST00000316623.10:c.4582+130del MANE Select	ENSP00000325527.5:n.4582+130del
ENST00000316623.9:c.4582+130del	ENSP00000325527.5:n.4582+130del
ENST00000537463.6:c.*345+130del	ENSP00000440294.2:n.*345+130del
NM_000138.4:c.4582+130del , LRG_778t1:c.4582+130del	NP_000129.3:n.4582+130del
NM_000138.5:c.4582+130del MANE Select	NP_000129.3:n.4582+130del