Canonical Allele Identifier: CA617839301

Gene: FBN1

Linked Data

• dbSNP Id: rs1395929747
• gnomAD v2: 15-48797146-C-CGTT
• gnomAD v3: 15-48504949-C-CGTT
• gnomAD v4: 15-48504949-C-CGTT
• MyVariant Identifiers: chr15:g.48797146_48797147insGTT (hg19) ; chr15:g.48504949_48504950insGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504950_48504952dup , CM000677.2:g.48504950_48504952dup	GRCh38
NC_000015.9:g.48797147_48797149dup , CM000677.1:g.48797147_48797149dup	GRCh37
NC_000015.8:g.46584439_46584441dup	NCBI36
NG_008805.2:g.145837_145839dup , LRG_778:g.145837_145839dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1960+73_1960+75dup	ENSP00000453958.2:n.1960+73_1960+75dup
ENST00000674301.2:c.1960+73_1960+75dup	ENSP00000501333.2:n.1960+73_1960+75dup
ENST00000684448.1:n.634+73_634+75dup
ENST00000316623.10:c.1960+73_1960+75dup MANE Select	ENSP00000325527.5:n.1960+73_1960+75dup
ENST00000316623.9:c.1960+73_1960+75dup	ENSP00000325527.5:n.1960+73_1960+75dup
ENST00000537463.6:c.637-30302_637-30300dup	ENSP00000440294.2:n.637-30302_637-30300dup
NM_000138.4:c.1960+73_1960+75dup , LRG_778t1:c.1960+73_1960+75dup	NP_000129.3:n.1960+73_1960+75dup
NM_000138.5:c.1960+73_1960+75dup MANE Select	NP_000129.3:n.1960+73_1960+75dup