Canonical Allele Identifier: CA2175464002

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421801_48421804delinsTTCA , CM000677.2:g.48421801_48421804delinsTTCA	GRCh38
NC_000015.9:g.48713998_48714001delinsTTCA , CM000677.1:g.48713998_48714001delinsTTCA	GRCh37
NC_000015.8:g.46501290_46501293delinsTTCA	NCBI36
NG_008805.2:g.228985_228988delinsTGAA , LRG_778:g.228985_228988delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-118_*379-115delinsTGAA	ENSP00000453958.2:n.*379-118_*379-115delinsTGAA
ENST00000674301.2:c.*1084-118_*1084-115delinsTGAA	ENSP00000501333.2:n.*1084-118_*1084-115delinsTGAA
ENST00000682170.1:n.1752-118_1752-115delinsTGAA
ENST00000682767.1:n.868-118_868-115delinsTGAA
ENST00000316623.10:c.7571-118_7571-115delinsTGAA MANE Select	ENSP00000325527.5:n.7571-118_7571-115delinsTGAA
ENST00000674301.1:c.2737-118_2737-115delinsTGAA	ENSP00000501333.1:n.2737-118_2737-115delinsTGAA
ENST00000316623.9:c.7571-118_7571-115delinsTGAA	ENSP00000325527.5:n.7571-118_7571-115delinsTGAA
ENST00000559133.5:c.2940-118_2940-115delinsTGAA
NM_000138.4:c.7571-118_7571-115delinsTGAA , LRG_778t1:c.7571-118_7571-115delinsTGAA	NP_000129.3:n.7571-118_7571-115delinsTGAA
NM_000138.5:c.7571-118_7571-115delinsTGAA MANE Select	NP_000129.3:n.7571-118_7571-115delinsTGAA