Canonical Allele Identifier: CA713403337

Gene: FBN1

Linked Data

• dbSNP Id: rs1172100024
• gnomAD v3: 15-48445100-AAG-A
• gnomAD v4: 15-48445100-AAG-A
• MyVariant Identifiers: chr15:g.48737298_48737299del (hg19) ; chr15:g.48445101_48445102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445101_48445102del , CM000677.2:g.48445101_48445102del	GRCh38
NC_000015.9:g.48737298_48737299del , CM000677.1:g.48737298_48737299del	GRCh37
NC_000015.8:g.46524590_46524591del	NCBI36
NG_008805.2:g.205687_205688del , LRG_778:g.205687_205688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+274_5917+275del	ENSP00000453958.2:n.5917+274_5917+275del
ENST00000674301.2:c.5917+274_5917+275del	ENSP00000501333.2:n.5917+274_5917+275del
ENST00000684448.1:n.4591+274_4591+275del
ENST00000316623.10:c.5917+274_5917+275del MANE Select	ENSP00000325527.5:n.5917+274_5917+275del
ENST00000674301.1:c.916+274_916+275del	ENSP00000501333.1:n.916+274_916+275del
ENST00000316623.9:c.5917+274_5917+275del	ENSP00000325527.5:n.5917+274_5917+275del
ENST00000537463.6:c.*1680+274_*1680+275del	ENSP00000440294.2:n.*1680+274_*1680+275del
ENST00000559133.5:c.1224+274_1224+275del
ENST00000560820.1:n.37+274_37+275del
NM_000138.4:c.5917+274_5917+275del , LRG_778t1:c.5917+274_5917+275del	NP_000129.3:n.5917+274_5917+275del
NM_000138.5:c.5917+274_5917+275del MANE Select	NP_000129.3:n.5917+274_5917+275del