Canonical Allele Identifier: CA713396201

Gene: FBN1

Linked Data

• dbSNP Id: rs1435284924
• MyVariant Identifiers: chr15:g.48726914del (hg19) ; chr15:g.48434717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434717del , CM000677.2:g.48434717del	GRCh38
NC_000015.9:g.48726914del , CM000677.1:g.48726914del	GRCh37
NC_000015.8:g.46514206del	NCBI36
NG_008805.2:g.216072del , LRG_778:g.216072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6497-4del	ENSP00000453958.2:n.6497-4del
ENST00000674301.2:c.6497-4del	ENSP00000501333.2:n.6497-4del
ENST00000682170.1:n.106-4del
ENST00000316623.10:c.6497-4del MANE Select	ENSP00000325527.5:n.6497-4del
ENST00000674301.1:c.1496-4del	ENSP00000501333.1:n.1496-4del
ENST00000316623.9:c.6497-4del	ENSP00000325527.5:n.6497-4del
ENST00000537463.6:c.*2260-4del	ENSP00000440294.2:n.*2260-4del
ENST00000559133.5:c.1804-4del
NM_000138.4:c.6497-4del , LRG_778t1:c.6497-4del	NP_000129.3:n.6497-4del
NM_000138.5:c.6497-4del MANE Select	NP_000129.3:n.6497-4del