Canonical Allele Identifier: CA618009272

Gene: FBN1

Linked Data

• dbSNP Id: rs1406601409
• gnomAD v2: 15-48779654-ATG-A
• gnomAD v4: 15-48487457-ATG-A
• MyVariant Identifiers: chr15:g.48779655_48779656del (hg19) ; chr15:g.48487458_48487459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487459_48487460del , CM000677.2:g.48487459_48487460del	GRCh38
NC_000015.9:g.48779656_48779657del , CM000677.1:g.48779656_48779657del	GRCh37
NC_000015.8:g.46566948_46566949del	NCBI36
NG_008805.2:g.163330_163331del , LRG_778:g.163330_163331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-22_3338-21del	ENSP00000453958.2:n.3338-22_3338-21del
ENST00000674301.2:c.3338-22_3338-21del	ENSP00000501333.2:n.3338-22_3338-21del
ENST00000684448.1:n.2012-22_2012-21del
ENST00000316623.10:c.3338-22_3338-21del MANE Select	ENSP00000325527.5:n.3338-22_3338-21del
ENST00000316623.9:c.3338-22_3338-21del	ENSP00000325527.5:n.3338-22_3338-21del
ENST00000537463.6:c.637-12809_637-12808del	ENSP00000440294.2:n.637-12809_637-12808del
NM_000138.4:c.3338-22_3338-21del , LRG_778t1:c.3338-22_3338-21del	NP_000129.3:n.3338-22_3338-21del
NM_000138.5:c.3338-22_3338-21del MANE Select	NP_000129.3:n.3338-22_3338-21del