Canonical Allele Identifier: CA2730862918

Gene: FBN1

Linked Data

• dbSNP Id: rs2141295026

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488315_48488320del , CM000677.2:g.48488315_48488320del	GRCh38
NC_000015.9:g.48780512_48780517del , CM000677.1:g.48780512_48780517del	GRCh37
NC_000015.8:g.46567804_46567809del	NCBI36
NG_008805.2:g.162469_162474del , LRG_778:g.162469_162474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3208+48_3208+53del	ENSP00000453958.2:n.3208+48_3208+53del
ENST00000674301.2:c.3208+48_3208+53del	ENSP00000501333.2:n.3208+48_3208+53del
ENST00000684448.1:n.1882+48_1882+53del
ENST00000316623.10:c.3208+48_3208+53del MANE Select	ENSP00000325527.5:n.3208+48_3208+53del
ENST00000316623.9:c.3208+48_3208+53del	ENSP00000325527.5:n.3208+48_3208+53del
ENST00000537463.6:c.637-13670_637-13665del	ENSP00000440294.2:n.637-13670_637-13665del
NM_000138.4:c.3208+48_3208+53del , LRG_778t1:c.3208+48_3208+53del	NP_000129.3:n.3208+48_3208+53del
NM_000138.5:c.3208+48_3208+53del MANE Select	NP_000129.3:n.3208+48_3208+53del