Canonical Allele Identifier: CA617837049

Gene: FBN1

Linked Data

• dbSNP Id: rs1252689699
• gnomAD v2: 15-48786743-TTC-T
• gnomAD v3: 15-48494546-TTC-T
• gnomAD v4: 15-48494546-TTC-T
• MyVariant Identifiers: chr15:g.48786744_48786745del (hg19) ; chr15:g.48494547_48494548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494552_48494553del , CM000677.2:g.48494552_48494553del	GRCh38
NC_000015.9:g.48786749_48786750del , CM000677.1:g.48786749_48786750del	GRCh37
NC_000015.8:g.46574041_46574042del	NCBI36
NG_008805.2:g.156241_156242del , LRG_778:g.156241_156242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2678-294_2678-293del	ENSP00000453958.2:n.2678-294_2678-293del
ENST00000674301.2:c.2678-294_2678-293del	ENSP00000501333.2:n.2678-294_2678-293del
ENST00000684448.1:n.1352-294_1352-293del
ENST00000316623.10:c.2678-294_2678-293del MANE Select	ENSP00000325527.5:n.2678-294_2678-293del
ENST00000316623.9:c.2678-294_2678-293del	ENSP00000325527.5:n.2678-294_2678-293del
ENST00000537463.6:c.637-19898_637-19897del	ENSP00000440294.2:n.637-19898_637-19897del
NM_000138.4:c.2678-294_2678-293del , LRG_778t1:c.2678-294_2678-293del	NP_000129.3:n.2678-294_2678-293del
NM_000138.5:c.2678-294_2678-293del MANE Select	NP_000129.3:n.2678-294_2678-293del