Canonical Allele Identifier: CA2175516357

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488477_48488478delinsCT , CM000677.2:g.48488477_48488478delinsCT	GRCh38
NC_000015.9:g.48780674_48780675delinsCT , CM000677.1:g.48780674_48780675delinsCT	GRCh37
NC_000015.8:g.46567966_46567967delinsCT	NCBI36
NG_008805.2:g.162311_162312delinsAG , LRG_778:g.162311_162312delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3098_3099delinsAG	ENSP00000453958.2:p.Lys1033=
ENST00000674301.2:c.3098_3099delinsAG	ENSP00000501333.2:p.Lys1033=
ENST00000684448.1:n.1772_1773delinsAG
ENST00000316623.10:c.3098_3099delinsAG MANE Select	ENSP00000325527.5:p.Lys1033=
ENST00000316623.9:c.3098_3099delinsAG	ENSP00000325527.5:p.Lys1033=
ENST00000537463.6:c.637-13828_637-13827delinsAG	ENSP00000440294.2:n.637-13828_637-13827delinsAG
NM_000138.4:c.3098_3099delinsAG , LRG_778t1:c.3098_3099delinsAG	NP_000129.3:p.Lys1033=
NM_000138.5:c.3098_3099delinsAG MANE Select	NP_000129.3:p.Lys1033=