Canonical Allele Identifier: CA617839847

Gene: FBN1

Linked Data

• dbSNP Id: rs1206192842
• gnomAD v2: 15-48800992-ATTTC-A
• gnomAD v3: 15-48508795-ATTTC-A
• gnomAD v4: 15-48508795-ATTTC-A
• MyVariant Identifiers: chr15:g.48800993_48800996del (hg19) ; chr15:g.48508796_48508799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508803_48508806del , CM000677.2:g.48508803_48508806del	GRCh38
NC_000015.9:g.48801000_48801003del , CM000677.1:g.48801000_48801003del	GRCh37
NC_000015.8:g.46588292_46588295del	NCBI36
NG_008805.2:g.141990_141993del , LRG_778:g.141990_141993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-95_1715-92del	ENSP00000453958.2:n.1715-95_1715-92del
ENST00000674301.2:c.1715-95_1715-92del	ENSP00000501333.2:n.1715-95_1715-92del
ENST00000684448.1:n.389-95_389-92del
ENST00000316623.10:c.1715-95_1715-92del MANE Select	ENSP00000325527.5:n.1715-95_1715-92del
ENST00000316623.9:c.1715-95_1715-92del	ENSP00000325527.5:n.1715-95_1715-92del
ENST00000537463.6:c.636+28912_636+28915del	ENSP00000440294.2:n.636+28912_636+28915del
NM_000138.4:c.1715-95_1715-92del , LRG_778t1:c.1715-95_1715-92del	NP_000129.3:n.1715-95_1715-92del
NM_000138.5:c.1715-95_1715-92del MANE Select	NP_000129.3:n.1715-95_1715-92del