Canonical Allele Identifier: CA2575717383

Gene: FBN1

Linked Data

• gnomAD v4: 15-48487024-ATAAAATAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487034_48487043del , CM000677.2:g.48487034_48487043del	GRCh38
NC_000015.9:g.48779231_48779240del , CM000677.1:g.48779231_48779240del	GRCh37
NC_000015.8:g.46566523_46566532del	NCBI36
NG_008805.2:g.163755_163764del , LRG_778:g.163755_163764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+41_3589+50del	ENSP00000453958.2:n.3589+41_3589+50del
ENST00000674301.2:c.3589+41_3589+50del	ENSP00000501333.2:n.3589+41_3589+50del
ENST00000684448.1:n.2263+41_2263+50del
ENST00000316623.10:c.3589+41_3589+50del MANE Select	ENSP00000325527.5:n.3589+41_3589+50del
ENST00000316623.9:c.3589+41_3589+50del	ENSP00000325527.5:n.3589+41_3589+50del
ENST00000537463.6:c.637-12384_637-12375del	ENSP00000440294.2:n.637-12384_637-12375del
NM_000138.4:c.3589+41_3589+50del , LRG_778t1:c.3589+41_3589+50del	NP_000129.3:n.3589+41_3589+50del
NM_000138.5:c.3589+41_3589+50del MANE Select	NP_000129.3:n.3589+41_3589+50del