Canonical Allele Identifier: CA2695220623

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472629_48472634del , CM000677.2:g.48472629_48472634del	GRCh38
NC_000015.9:g.48764826_48764831del , CM000677.1:g.48764826_48764831del	GRCh37
NC_000015.8:g.46552118_46552123del	NCBI36
NG_008805.2:g.178158_178163del , LRG_778:g.178158_178163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4256_4261del	ENSP00000453958.2:p.Gln1419_Cys1420del
ENST00000674301.2:c.4256_4261del	ENSP00000501333.2:p.Gln1419_Cys1420del
ENST00000683268.1:n.223_228del
ENST00000684448.1:n.2930_2935del
ENST00000316623.10:c.4256_4261del MANE Select	ENSP00000325527.5:p.Gln1419_Cys1420del
ENST00000316623.9:c.4256_4261del	ENSP00000325527.5:p.Gln1419_Cys1420del
ENST00000537463.6:c.*19_*24del	ENSP00000440294.2:n.*19_*24del
NM_000138.4:c.4256_4261del , LRG_778t1:c.4256_4261del	NP_000129.3:p.Gln1419_Cys1420del
NM_000138.5:c.4256_4261del MANE Select	NP_000129.3:p.Gln1419_Cys1420del