Canonical Allele Identifier: CA2628332150

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428614-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428616_48428617del , CM000677.2:g.48428616_48428617del	GRCh38
NC_000015.9:g.48720813_48720814del , CM000677.1:g.48720813_48720814del	GRCh37
NC_000015.8:g.46508105_46508106del	NCBI36
NG_008805.2:g.222173_222174del , LRG_778:g.222173_222174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-145_6872-144del	ENSP00000453958.2:n.6872-145_6872-144del
ENST00000674301.2:c.*323-145_*323-144del	ENSP00000501333.2:n.*323-145_*323-144del
ENST00000682170.1:n.481-145_481-144del
ENST00000316623.10:c.6872-145_6872-144del MANE Select	ENSP00000325527.5:n.6872-145_6872-144del
ENST00000674301.1:c.1976-145_1976-144del	ENSP00000501333.1:n.1976-145_1976-144del
ENST00000316623.9:c.6872-145_6872-144del	ENSP00000325527.5:n.6872-145_6872-144del
ENST00000559133.5:c.2179-145_2179-144del
ENST00000560720.1:n.159-145_159-144del
NM_000138.4:c.6872-145_6872-144del , LRG_778t1:c.6872-145_6872-144del	NP_000129.3:n.6872-145_6872-144del
NM_000138.5:c.6872-145_6872-144del MANE Select	NP_000129.3:n.6872-145_6872-144del