Canonical Allele Identifier: CA617836982

Gene: FBN1

Linked Data

• dbSNP Id: rs1566898242
• gnomAD v2: 15-48737315-ATACACATATATATATATACACACACACATATATATATACATATATATATACACACATATATATATGTATATATATATACATATATATATG-A
• gnomAD v3: 15-48445118-ATACACATATATATATATACACACACACATATATATATACATATATATATACACACATATATATATGTATATATATATACATATATATATG-A
• gnomAD v4: 15-48445118-ATACACATATATATATATACACACACACATATATATATACATATATATATACACACATATATATATGTATATATATATACATATATATATG-A
• MyVariant Identifiers: chr15:g.48737316_48737405del (hg19) ; chr15:g.48445119_48445208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445120_48445209del , CM000677.2:g.48445120_48445209del	GRCh38
NC_000015.9:g.48737317_48737406del , CM000677.1:g.48737317_48737406del	GRCh37
NC_000015.8:g.46524609_46524698del	NCBI36
NG_008805.2:g.205581_205670del , LRG_778:g.205581_205670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+168_5917+257del	ENSP00000453958.2:n.5917+168_5917+257del
ENST00000674301.2:c.5917+168_5917+257del	ENSP00000501333.2:n.5917+168_5917+257del
ENST00000684448.1:n.4591+168_4591+257del
ENST00000316623.10:c.5917+168_5917+257del MANE Select	ENSP00000325527.5:n.5917+168_5917+257del
ENST00000674301.1:c.916+168_916+257del	ENSP00000501333.1:n.916+168_916+257del
ENST00000316623.9:c.5917+168_5917+257del	ENSP00000325527.5:n.5917+168_5917+257del
ENST00000537463.6:c.*1680+168_*1680+257del	ENSP00000440294.2:n.*1680+168_*1680+257del
ENST00000559133.5:c.1224+168_1224+257del
ENST00000560820.1:n.37+168_37+257del
NM_000138.4:c.5917+168_5917+257del , LRG_778t1:c.5917+168_5917+257del	NP_000129.3:n.5917+168_5917+257del
NM_000138.5:c.5917+168_5917+257del MANE Select	NP_000129.3:n.5917+168_5917+257del