Canonical Allele Identifier: CA2175463985

Gene: FBN1

Linked Data

• dbSNP Id: rs2042944523

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421799_48421803del , CM000677.2:g.48421799_48421803del	GRCh38
NC_000015.9:g.48713996_48714000del , CM000677.1:g.48713996_48714000del	GRCh37
NC_000015.8:g.46501288_46501292del	NCBI36
NG_008805.2:g.228987_228991del , LRG_778:g.228987_228991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-116_*379-112del	ENSP00000453958.2:n.*379-116_*379-112del
ENST00000674301.2:c.*1084-116_*1084-112del	ENSP00000501333.2:n.*1084-116_*1084-112del
ENST00000682170.1:n.1752-116_1752-112del
ENST00000682767.1:n.868-116_868-112del
ENST00000316623.10:c.7571-116_7571-112del MANE Select	ENSP00000325527.5:n.7571-116_7571-112del
ENST00000674301.1:c.2737-116_2737-112del	ENSP00000501333.1:n.2737-116_2737-112del
ENST00000316623.9:c.7571-116_7571-112del	ENSP00000325527.5:n.7571-116_7571-112del
ENST00000559133.5:c.2940-116_2940-112del
NM_000138.4:c.7571-116_7571-112del , LRG_778t1:c.7571-116_7571-112del	NP_000129.3:n.7571-116_7571-112del
NM_000138.5:c.7571-116_7571-112del MANE Select	NP_000129.3:n.7571-116_7571-112del