Canonical Allele Identifier: CA2628329790

Gene: FBN1

Linked Data

• gnomAD v4: 15-48486989-ATAAAATAAAATAAAATAACATAACATAACATAACATAAAATAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487008_48487052del , CM000677.2:g.48487008_48487052del	GRCh38
NC_000015.9:g.48779205_48779249del , CM000677.1:g.48779205_48779249del	GRCh37
NC_000015.8:g.46566497_46566541del	NCBI36
NG_008805.2:g.163755_163799del , LRG_778:g.163755_163799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+41_3589+85del	ENSP00000453958.2:n.3589+41_3589+85del
ENST00000674301.2:c.3589+41_3589+85del	ENSP00000501333.2:n.3589+41_3589+85del
ENST00000684448.1:n.2263+41_2263+85del
ENST00000316623.10:c.3589+41_3589+85del MANE Select	ENSP00000325527.5:n.3589+41_3589+85del
ENST00000316623.9:c.3589+41_3589+85del	ENSP00000325527.5:n.3589+41_3589+85del
ENST00000537463.6:c.637-12384_637-12340del	ENSP00000440294.2:n.637-12384_637-12340del
NM_000138.4:c.3589+41_3589+85del , LRG_778t1:c.3589+41_3589+85del	NP_000129.3:n.3589+41_3589+85del
NM_000138.5:c.3589+41_3589+85del MANE Select	NP_000129.3:n.3589+41_3589+85del