Canonical Allele Identifier: CA2175518415

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468431_48468432delinsTG , CM000677.2:g.48468431_48468432delinsTG	GRCh38
NC_000015.9:g.48760628_48760629delinsTG , CM000677.1:g.48760628_48760629delinsTG	GRCh37
NC_000015.8:g.46547920_46547921delinsTG	NCBI36
NG_008805.2:g.182357_182358delinsCA , LRG_778:g.182357_182358delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4562_4563delinsCA	ENSP00000453958.2:p.Pro1521=
ENST00000674301.2:c.4562_4563delinsCA	ENSP00000501333.2:p.Pro1521=
ENST00000684448.1:n.3236_3237delinsCA
ENST00000316623.10:c.4562_4563delinsCA MANE Select	ENSP00000325527.5:p.Pro1521=
ENST00000316623.9:c.4562_4563delinsCA	ENSP00000325527.5:p.Pro1521=
ENST00000537463.6:c.*325_*326delinsCA	ENSP00000440294.2:n.*325_*326delinsCA
NM_000138.4:c.4562_4563delinsCA , LRG_778t1:c.4562_4563delinsCA	NP_000129.3:p.Pro1521=
NM_000138.5:c.4562_4563delinsCA MANE Select	NP_000129.3:p.Pro1521=