Canonical Allele Identifier: CA2175512129

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485510_48485513delinsAAAT , CM000677.2:g.48485510_48485513delinsAAAT	GRCh38
NC_000015.9:g.48777707_48777710delinsAAAT , CM000677.1:g.48777707_48777710delinsAAAT	GRCh37
NC_000015.8:g.46564999_46565002delinsAAAT	NCBI36
NG_008805.2:g.165276_165279delinsATTT , LRG_778:g.165276_165279delinsATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3590-17_3590-14delinsATTT	ENSP00000453958.2:n.3590-17_3590-14delinsATTT
ENST00000674301.2:c.3590-17_3590-14delinsATTT	ENSP00000501333.2:n.3590-17_3590-14delinsATTT
ENST00000684448.1:n.2264-17_2264-14delinsATTT
ENST00000316623.10:c.3590-17_3590-14delinsATTT MANE Select	ENSP00000325527.5:n.3590-17_3590-14delinsATTT
ENST00000316623.9:c.3590-17_3590-14delinsATTT	ENSP00000325527.5:n.3590-17_3590-14delinsATTT
ENST00000537463.6:c.637-10863_637-10860delinsATTT	ENSP00000440294.2:n.637-10863_637-10860delinsATTT
NM_000138.4:c.3590-17_3590-14delinsATTT , LRG_778t1:c.3590-17_3590-14delinsATTT	NP_000129.3:n.3590-17_3590-14delinsATTT
NM_000138.5:c.3590-17_3590-14delinsATTT MANE Select	NP_000129.3:n.3590-17_3590-14delinsATTT