Canonical Allele Identifier: CA2175521280

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489851_48489852delinsCT , CM000677.2:g.48489851_48489852delinsCT	GRCh38
NC_000015.9:g.48782048_48782049delinsCT , CM000677.1:g.48782048_48782049delinsCT	GRCh37
NC_000015.8:g.46569340_46569341delinsCT	NCBI36
NG_008805.2:g.160937_160938delinsAG , LRG_778:g.160937_160938delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3081_3082delinsAG	ENSP00000453958.2:p.Lys1027=
ENST00000674301.2:c.3081_3082delinsAG	ENSP00000501333.2:p.Lys1027=
ENST00000684448.1:n.1755_1756delinsAG
ENST00000316623.10:c.3081_3082delinsAG MANE Select	ENSP00000325527.5:p.Lys1027=
ENST00000316623.9:c.3081_3082delinsAG	ENSP00000325527.5:p.Lys1027=
ENST00000537463.6:c.637-15202_637-15201delinsAG	ENSP00000440294.2:n.637-15202_637-15201delinsAG
NM_000138.4:c.3081_3082delinsAG , LRG_778t1:c.3081_3082delinsAG	NP_000129.3:p.Lys1027=
NM_000138.5:c.3081_3082delinsAG MANE Select	NP_000129.3:p.Lys1027=