Canonical Allele Identifier: CA2175524051

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492500_48492501delinsTG , CM000677.2:g.48492500_48492501delinsTG	GRCh38
NC_000015.9:g.48784697_48784698delinsTG , CM000677.1:g.48784697_48784698delinsTG	GRCh37
NC_000015.8:g.46571989_46571990delinsTG	NCBI36
NG_008805.2:g.158288_158289delinsCA , LRG_778:g.158288_158289delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2814_2815delinsCA	ENSP00000453958.2:p.Pro938=
ENST00000674301.2:c.2814_2815delinsCA	ENSP00000501333.2:p.Pro938=
ENST00000684448.1:n.1488_1489delinsCA
ENST00000316623.10:c.2814_2815delinsCA MANE Select	ENSP00000325527.5:p.Pro938=
ENST00000316623.9:c.2814_2815delinsCA	ENSP00000325527.5:p.Pro938=
ENST00000537463.6:c.637-17851_637-17850delinsCA	ENSP00000440294.2:n.637-17851_637-17850delinsCA
NM_000138.4:c.2814_2815delinsCA , LRG_778t1:c.2814_2815delinsCA	NP_000129.3:p.Pro938=
NM_000138.5:c.2814_2815delinsCA MANE Select	NP_000129.3:p.Pro938=