Canonical Allele Identifier: CA2804074058

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520881_48520882insAACA , CM000677.2:g.48520881_48520882insAACA	GRCh38
NC_000015.9:g.48813078_48813079insAACA , CM000677.1:g.48813078_48813079insAACA	GRCh37
NC_000015.8:g.46600370_46600371insAACA	NCBI36
NG_008805.2:g.129907_129908insTGTT , LRG_778:g.129907_129908insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-65_989-64insTGTT	ENSP00000453958.2:n.989-65_989-64insTGTT
ENST00000674301.2:c.989-65_989-64insTGTT	ENSP00000501333.2:n.989-65_989-64insTGTT
ENST00000316623.10:c.989-65_989-64insTGTT MANE Select	ENSP00000325527.5:n.989-65_989-64insTGTT
ENST00000316623.9:c.989-65_989-64insTGTT	ENSP00000325527.5:n.989-65_989-64insTGTT
ENST00000537463.6:c.636+16829_636+16830insTGTT	ENSP00000440294.2:n.636+16829_636+16830insTGTT
NM_000138.4:c.989-65_989-64insTGTT , LRG_778t1:c.989-65_989-64insTGTT	NP_000129.3:n.989-65_989-64insTGTT
NM_000138.5:c.989-65_989-64insTGTT MANE Select	NP_000129.3:n.989-65_989-64insTGTT