Canonical Allele Identifier: CA057644

Gene: FBN1

Linked Data

• dbSNP Id: rs771173737
• ExAC: 15:48720552 CGTCCT / C
• gnomAD v2: 15-48720552-CGTCCT-C
• gnomAD v4: 15-48428355-CGTCCT-C
• MyVariant Identifiers: chr15:g.48720553_48720557del (hg19) ; chr15:g.48428356_48428360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428357_48428361del , CM000677.2:g.48428357_48428361del	GRCh38
NC_000015.9:g.48720554_48720558del , CM000677.1:g.48720554_48720558del	GRCh37
NC_000015.8:g.46507846_46507850del	NCBI36
NG_008805.2:g.222429_222433del , LRG_778:g.222429_222433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6983_6987del	ENSP00000453958.2:p.Gln2328ArgfsTer4
ENST00000674301.2:c.*434_*438del	ENSP00000501333.2:n.*434_*438del
ENST00000682170.1:n.592_596del
ENST00000682767.1:n.218_222del
ENST00000316623.10:c.6983_6987del MANE Select	ENSP00000325527.5:p.Gln2328ArgfsTer4
ENST00000674301.1:c.2087_2091del	ENSP00000501333.1:n.2087_2091del
ENST00000316623.9:c.6983_6987del	ENSP00000325527.5:p.Gln2328ArgfsTer4
ENST00000559133.5:c.2290_2294del
ENST00000560720.1:n.270_274del
NM_000138.4:c.6983_6987del , LRG_778t1:c.6983_6987del	NP_000129.3:p.Gln2328ArgfsTer4
NM_000138.5:c.6983_6987del MANE Select	NP_000129.3:p.Gln2328ArgfsTer4