Canonical Allele Identifier: CA2175492507

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445431_48445432delinsGA , CM000677.2:g.48445431_48445432delinsGA	GRCh38
NC_000015.9:g.48737628_48737629delinsGA , CM000677.1:g.48737628_48737629delinsGA	GRCh37
NC_000015.8:g.46524920_46524921delinsGA	NCBI36
NG_008805.2:g.205357_205358delinsTC , LRG_778:g.205357_205358delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5861_5862delinsTC	ENSP00000453958.2:p.Phe1954=
ENST00000674301.2:c.5861_5862delinsTC	ENSP00000501333.2:p.Phe1954=
ENST00000684448.1:n.4535_4536delinsTC
ENST00000316623.10:c.5861_5862delinsTC MANE Select	ENSP00000325527.5:p.Phe1954=
ENST00000674301.1:c.860_861delinsTC	ENSP00000501333.1:p.Phe287=
ENST00000316623.9:c.5861_5862delinsTC	ENSP00000325527.5:p.Phe1954=
ENST00000537463.6:c.*1624_*1625delinsTC	ENSP00000440294.2:n.*1624_*1625delinsTC
ENST00000559133.5:c.1168_1169delinsTC
NM_000138.4:c.5861_5862delinsTC , LRG_778t1:c.5861_5862delinsTC	NP_000129.3:p.Phe1954=
NM_000138.5:c.5861_5862delinsTC MANE Select	NP_000129.3:p.Phe1954=