Canonical Allele Identifier: CA2628325166

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412501-GAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412502_48412505del , CM000677.2:g.48412502_48412505del	GRCh38
NC_000015.9:g.48704699_48704702del , CM000677.1:g.48704699_48704702del	GRCh37
NC_000015.8:g.46491991_46491994del	NCBI36
NG_008805.2:g.238284_238287del , LRG_778:g.238284_238287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1034+64_*1034+67del	ENSP00000453958.2:n.*1034+64_*1034+67del
ENST00000674301.2:c.*1739+64_*1739+67del	ENSP00000501333.2:n.*1739+64_*1739+67del
ENST00000682158.1:n.1607+64_1607+67del
ENST00000682170.1:n.2407+64_2407+67del
ENST00000682767.1:n.1523+64_1523+67del
ENST00000316623.10:c.8226+64_8226+67del MANE Select	ENSP00000325527.5:n.8226+64_8226+67del
ENST00000674301.1:c.3392+64_3392+67del	ENSP00000501333.1:n.3392+64_3392+67del
ENST00000316623.9:c.8226+64_8226+67del	ENSP00000325527.5:n.8226+64_8226+67del
ENST00000559133.5:c.3595+64_3595+67del
ENST00000561429.1:n.481+64_481+67del
NM_000138.4:c.8226+64_8226+67del , LRG_778t1:c.8226+64_8226+67del	NP_000129.3:n.8226+64_8226+67del
NM_000138.5:c.8226+64_8226+67del MANE Select	NP_000129.3:n.8226+64_8226+67del