Canonical Allele Identifier: CA490022099

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1190264
• ClinVar RCV Id: RCV001550902
• dbSNP Id: rs931622804
• gnomAD v2: 15-48737320-CAT-C
• gnomAD v3: 15-48445123-CAT-C
• gnomAD v4: 15-48445123-CAT-C
• MyVariant Identifiers: chr15:g.48737323_48737324del (hg19) ; chr15:g.48737321_48737322del (hg19) ; chr15:g.48445126_48445127del (hg38) ; chr15:g.48445124_48445125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445135_48445136del , CM000677.2:g.48445135_48445136del	GRCh38
NC_000015.9:g.48737332_48737333del , CM000677.1:g.48737332_48737333del	GRCh37
NC_000015.8:g.46524624_46524625del	NCBI36
NG_008805.2:g.205664_205665del , LRG_778:g.205664_205665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+251_5917+252del	ENSP00000453958.2:n.5917+251_5917+252del
ENST00000674301.2:c.5917+251_5917+252del	ENSP00000501333.2:n.5917+251_5917+252del
ENST00000684448.1:n.4591+251_4591+252del
ENST00000316623.10:c.5917+251_5917+252del MANE Select	ENSP00000325527.5:n.5917+251_5917+252del
ENST00000674301.1:c.916+251_916+252del	ENSP00000501333.1:n.916+251_916+252del
ENST00000316623.9:c.5917+251_5917+252del	ENSP00000325527.5:n.5917+251_5917+252del
ENST00000537463.6:c.*1680+251_*1680+252del	ENSP00000440294.2:n.*1680+251_*1680+252del
ENST00000559133.5:c.1224+251_1224+252del
ENST00000560820.1:n.37+251_37+252del
NM_000138.4:c.5917+251_5917+252del , LRG_778t1:c.5917+251_5917+252del	NP_000129.3:n.5917+251_5917+252del
NM_000138.5:c.5917+251_5917+252del MANE Select	NP_000129.3:n.5917+251_5917+252del