Canonical Allele Identifier: CA269518743

Gene: FBN1

Linked Data

• dbSNP Id: rs892078893
• gnomAD v2: 15-48705099-CTGTT-C
• gnomAD v3: 15-48412902-CTGTT-C
• gnomAD v4: 15-48412902-CTGTT-C
• MyVariant Identifiers: chr15:g.48705100_48705103del (hg19) ; chr15:g.48412903_48412906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412905_48412908del , CM000677.2:g.48412905_48412908del	GRCh38
NC_000015.9:g.48705102_48705105del , CM000677.1:g.48705102_48705105del	GRCh37
NC_000015.8:g.46492394_46492397del	NCBI36
NG_008805.2:g.237883_237886del , LRG_778:g.237883_237886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-163_*860-160del	ENSP00000453958.2:n.*860-163_*860-160del
ENST00000674301.2:c.*1565-163_*1565-160del	ENSP00000501333.2:n.*1565-163_*1565-160del
ENST00000682158.1:n.1433-163_1433-160del
ENST00000682170.1:n.2233-163_2233-160del
ENST00000682767.1:n.1349-163_1349-160del
ENST00000316623.10:c.8052-163_8052-160del MANE Select	ENSP00000325527.5:n.8052-163_8052-160del
ENST00000674301.1:c.3218-163_3218-160del	ENSP00000501333.1:n.3218-163_3218-160del
ENST00000316623.9:c.8052-163_8052-160del	ENSP00000325527.5:n.8052-163_8052-160del
ENST00000559133.5:c.3421-163_3421-160del
ENST00000561429.1:n.307-163_307-160del
NM_000138.4:c.8052-163_8052-160del , LRG_778t1:c.8052-163_8052-160del	NP_000129.3:n.8052-163_8052-160del
NM_000138.5:c.8052-163_8052-160del MANE Select	NP_000129.3:n.8052-163_8052-160del