Canonical Allele Identifier: CA059562

Gene: FBN1

Linked Data

• dbSNP Id: rs774321510
• ExAC: 15:48704965 GTT / G
• gnomAD v2: 15-48704965-GTT-G
• gnomAD v4: 15-48412768-GTT-G
• MyVariant Identifiers: chr15:g.48704966_48704967del (hg19) ; chr15:g.48412769_48412770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412772_48412773del , CM000677.2:g.48412772_48412773del	GRCh38
NC_000015.9:g.48704969_48704970del , CM000677.1:g.48704969_48704970del	GRCh37
NC_000015.8:g.46492261_46492262del	NCBI36
NG_008805.2:g.238019_238020del , LRG_778:g.238019_238020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-27_*860-26del	ENSP00000453958.2:n.*860-27_*860-26del
ENST00000674301.2:c.*1565-27_*1565-26del	ENSP00000501333.2:n.*1565-27_*1565-26del
ENST00000682158.1:n.1433-27_1433-26del
ENST00000682170.1:n.2233-27_2233-26del
ENST00000682767.1:n.1349-27_1349-26del
ENST00000316623.10:c.8052-27_8052-26del MANE Select	ENSP00000325527.5:n.8052-27_8052-26del
ENST00000674301.1:c.3218-27_3218-26del	ENSP00000501333.1:n.3218-27_3218-26del
ENST00000316623.9:c.8052-27_8052-26del	ENSP00000325527.5:n.8052-27_8052-26del
ENST00000559133.5:c.3421-27_3421-26del
ENST00000561429.1:n.307-27_307-26del
NM_000138.4:c.8052-27_8052-26del , LRG_778t1:c.8052-27_8052-26del	NP_000129.3:n.8052-27_8052-26del
NM_000138.5:c.8052-27_8052-26del MANE Select	NP_000129.3:n.8052-27_8052-26del