Canonical Allele Identifier: CA270059350

Gene: FBN1

Linked Data

• dbSNP Id: rs1057104822
• MyVariant Identifiers: chr15:g.48903321_48903324del (hg19) ; chr15:g.48611124_48611127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48611132_48611135del , CM000677.2:g.48611132_48611135del	GRCh38
NC_000015.9:g.48903329_48903332del , CM000677.1:g.48903329_48903332del	GRCh37
NC_000015.8:g.46690621_46690624del	NCBI36
NG_008805.2:g.39662_39665del , LRG_778:g.39662_39665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-301_248-298del	ENSP00000453958.2:n.248-301_248-298del
ENST00000674301.2:c.248-301_248-298del	ENSP00000501333.2:n.248-301_248-298del
ENST00000316623.10:c.248-301_248-298del MANE Select	ENSP00000325527.5:n.248-301_248-298del
ENST00000316623.9:c.248-301_248-298del	ENSP00000325527.5:n.248-301_248-298del
ENST00000537463.6:c.248-301_248-298del	ENSP00000440294.2:n.248-301_248-298del
NM_000138.4:c.248-301_248-298del , LRG_778t1:c.248-301_248-298del	NP_000129.3:n.248-301_248-298del
NM_000138.5:c.248-301_248-298del MANE Select	NP_000129.3:n.248-301_248-298del