Canonical Allele Identifier: CA713384998

Gene: FBN1

Linked Data

• dbSNP Id: rs1449602302
• gnomAD v3: 15-48487000-TAAAATAAC-T
• gnomAD v4: 15-48487000-TAAAATAAC-T
• MyVariant Identifiers: chr15:g.48779198_48779205del (hg19) ; chr15:g.48487001_48487008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487002_48487009del , CM000677.2:g.48487002_48487009del	GRCh38
NC_000015.9:g.48779199_48779206del , CM000677.1:g.48779199_48779206del	GRCh37
NC_000015.8:g.46566491_46566498del	NCBI36
NG_008805.2:g.163781_163788del , LRG_778:g.163781_163788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+67_3589+74del	ENSP00000453958.2:n.3589+67_3589+74del
ENST00000674301.2:c.3589+67_3589+74del	ENSP00000501333.2:n.3589+67_3589+74del
ENST00000684448.1:n.2263+67_2263+74del
ENST00000316623.10:c.3589+67_3589+74del MANE Select	ENSP00000325527.5:n.3589+67_3589+74del
ENST00000316623.9:c.3589+67_3589+74del	ENSP00000325527.5:n.3589+67_3589+74del
ENST00000537463.6:c.637-12358_637-12351del	ENSP00000440294.2:n.637-12358_637-12351del
NM_000138.4:c.3589+67_3589+74del , LRG_778t1:c.3589+67_3589+74del	NP_000129.3:n.3589+67_3589+74del
NM_000138.5:c.3589+67_3589+74del MANE Select	NP_000129.3:n.3589+67_3589+74del