Canonical Allele Identifier: CA2175518421

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468442_48468443delinsCA , CM000677.2:g.48468442_48468443delinsCA	GRCh38
NC_000015.9:g.48760639_48760640delinsCA , CM000677.1:g.48760639_48760640delinsCA	GRCh37
NC_000015.8:g.46547931_46547932delinsCA	NCBI36
NG_008805.2:g.182346_182347delinsTG , LRG_778:g.182346_182347delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4551_4552delinsTG	ENSP00000453958.2:p.Phe1517=
ENST00000674301.2:c.4551_4552delinsTG	ENSP00000501333.2:p.Phe1517=
ENST00000684448.1:n.3225_3226delinsTG
ENST00000316623.10:c.4551_4552delinsTG MANE Select	ENSP00000325527.5:p.Phe1517=
ENST00000316623.9:c.4551_4552delinsTG	ENSP00000325527.5:p.Phe1517=
ENST00000537463.6:c.*314_*315delinsTG	ENSP00000440294.2:n.*314_*315delinsTG
NM_000138.4:c.4551_4552delinsTG , LRG_778t1:c.4551_4552delinsTG	NP_000129.3:p.Phe1517=
NM_000138.5:c.4551_4552delinsTG MANE Select	NP_000129.3:p.Phe1517=