Canonical Allele Identifier: CA2575716967

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428564-CTCCCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428572_48428579del , CM000677.2:g.48428572_48428579del	GRCh38
NC_000015.9:g.48720769_48720776del , CM000677.1:g.48720769_48720776del	GRCh37
NC_000015.8:g.46508061_46508068del	NCBI36
NG_008805.2:g.222217_222224del , LRG_778:g.222217_222224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-101_6872-94del	ENSP00000453958.2:n.6872-101_6872-94del
ENST00000674301.2:c.*323-101_*323-94del	ENSP00000501333.2:n.*323-101_*323-94del
ENST00000682170.1:n.481-101_481-94del
ENST00000316623.10:c.6872-101_6872-94del MANE Select	ENSP00000325527.5:n.6872-101_6872-94del
ENST00000674301.1:c.1976-101_1976-94del	ENSP00000501333.1:n.1976-101_1976-94del
ENST00000316623.9:c.6872-101_6872-94del	ENSP00000325527.5:n.6872-101_6872-94del
ENST00000559133.5:c.2179-101_2179-94del
ENST00000560720.1:n.159-101_159-94del
NM_000138.4:c.6872-101_6872-94del , LRG_778t1:c.6872-101_6872-94del	NP_000129.3:n.6872-101_6872-94del
NM_000138.5:c.6872-101_6872-94del MANE Select	NP_000129.3:n.6872-101_6872-94del