Canonical Allele Identifier: CA2575716956

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428540del , CM000677.2:g.48428540del	GRCh38
NC_000015.9:g.48720737del , CM000677.1:g.48720737del	GRCh37
NC_000015.8:g.46508029del	NCBI36
NG_008805.2:g.222250del , LRG_778:g.222250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-68del	ENSP00000453958.2:n.6872-68del
ENST00000674301.2:c.*323-68del	ENSP00000501333.2:n.*323-68del
ENST00000682170.1:n.481-68del
ENST00000682767.1:n.39del
ENST00000316623.10:c.6872-68del MANE Select	ENSP00000325527.5:n.6872-68del
ENST00000674301.1:c.1976-68del	ENSP00000501333.1:n.1976-68del
ENST00000316623.9:c.6872-68del	ENSP00000325527.5:n.6872-68del
ENST00000559133.5:c.2179-68del
ENST00000560720.1:n.159-68del
NM_000138.4:c.6872-68del , LRG_778t1:c.6872-68del	NP_000129.3:n.6872-68del
NM_000138.5:c.6872-68del MANE Select	NP_000129.3:n.6872-68del