Canonical Allele Identifier: CA2175492416

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445406_48445408delinsCAT , CM000677.2:g.48445406_48445408delinsCAT	GRCh38
NC_000015.9:g.48737603_48737605delinsCAT , CM000677.1:g.48737603_48737605delinsCAT	GRCh37
NC_000015.8:g.46524895_46524897delinsCAT	NCBI36
NG_008805.2:g.205381_205383delinsATG , LRG_778:g.205381_205383delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5885_5887delinsATG	ENSP00000453958.2:p.Tyr1962=
ENST00000674301.2:c.5885_5887delinsATG	ENSP00000501333.2:p.Tyr1962=
ENST00000684448.1:n.4559_4561delinsATG
ENST00000316623.10:c.5885_5887delinsATG MANE Select	ENSP00000325527.5:p.Tyr1962=
ENST00000674301.1:c.884_886delinsATG	ENSP00000501333.1:p.Tyr295=
ENST00000316623.9:c.5885_5887delinsATG	ENSP00000325527.5:p.Tyr1962=
ENST00000537463.6:c.*1648_*1650delinsATG	ENSP00000440294.2:n.*1648_*1650delinsATG
ENST00000559133.5:c.1192_1194delinsATG
ENST00000560820.1:n.5_7delinsATG
NM_000138.4:c.5885_5887delinsATG , LRG_778t1:c.5885_5887delinsATG	NP_000129.3:p.Tyr1962=
NM_000138.5:c.5885_5887delinsATG MANE Select	NP_000129.3:p.Tyr1962=