Canonical Allele Identifier: CA269532562

Gene: FBN1

Linked Data

• dbSNP Id: rs979420871
• gnomAD v2: 15-48737381-GTATA-G
• gnomAD v3: 15-48445184-GTATA-G
• gnomAD v4: 15-48445184-GTATA-G
• MyVariant Identifiers: chr15:g.48737382_48737385del (hg19) ; chr15:g.48445185_48445188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445193_48445196del , CM000677.2:g.48445193_48445196del	GRCh38
NC_000015.9:g.48737390_48737393del , CM000677.1:g.48737390_48737393del	GRCh37
NC_000015.8:g.46524682_46524685del	NCBI36
NG_008805.2:g.205601_205604del , LRG_778:g.205601_205604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+188_5917+191del	ENSP00000453958.2:n.5917+188_5917+191del
ENST00000674301.2:c.5917+188_5917+191del	ENSP00000501333.2:n.5917+188_5917+191del
ENST00000684448.1:n.4591+188_4591+191del
ENST00000316623.10:c.5917+188_5917+191del MANE Select	ENSP00000325527.5:n.5917+188_5917+191del
ENST00000674301.1:c.916+188_916+191del	ENSP00000501333.1:n.916+188_916+191del
ENST00000316623.9:c.5917+188_5917+191del	ENSP00000325527.5:n.5917+188_5917+191del
ENST00000537463.6:c.*1680+188_*1680+191del	ENSP00000440294.2:n.*1680+188_*1680+191del
ENST00000559133.5:c.1224+188_1224+191del
ENST00000560820.1:n.37+188_37+191del
NM_000138.4:c.5917+188_5917+191del , LRG_778t1:c.5917+188_5917+191del	NP_000129.3:n.5917+188_5917+191del
NM_000138.5:c.5917+188_5917+191del MANE Select	NP_000129.3:n.5917+188_5917+191del