Canonical Allele Identifier: CA2175526415

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503805_48503806delinsAC , CM000677.2:g.48503805_48503806delinsAC	GRCh38
NC_000015.9:g.48796002_48796003delinsAC , CM000677.1:g.48796002_48796003delinsAC	GRCh37
NC_000015.8:g.46583294_46583295delinsAC	NCBI36
NG_008805.2:g.146983_146984delinsGT , LRG_778:g.146983_146984delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2094_2095delinsGT	ENSP00000453958.2:p.Pro698=
ENST00000674301.2:c.2094_2095delinsGT	ENSP00000501333.2:p.Pro698=
ENST00000684448.1:n.768_769delinsGT
ENST00000316623.10:c.2094_2095delinsGT MANE Select	ENSP00000325527.5:p.Pro698=
ENST00000316623.9:c.2094_2095delinsGT	ENSP00000325527.5:p.Pro698=
ENST00000537463.6:c.637-29156_637-29155delinsGT	ENSP00000440294.2:n.637-29156_637-29155delinsGT
NM_000138.4:c.2094_2095delinsGT , LRG_778t1:c.2094_2095delinsGT	NP_000129.3:p.Pro698=
NM_000138.5:c.2094_2095delinsGT MANE Select	NP_000129.3:p.Pro698=