Canonical Allele Identifier: CA2175463936

Gene: FBN1

Linked Data

• dbSNP Id: rs2042944171
• gnomAD v4: 15-48421759-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421762_48421764del , CM000677.2:g.48421762_48421764del	GRCh38
NC_000015.9:g.48713959_48713961del , CM000677.1:g.48713959_48713961del	GRCh37
NC_000015.8:g.46501251_46501253del	NCBI36
NG_008805.2:g.229027_229029del , LRG_778:g.229027_229029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-76_*379-74del	ENSP00000453958.2:n.*379-76_*379-74del
ENST00000674301.2:c.*1084-76_*1084-74del	ENSP00000501333.2:n.*1084-76_*1084-74del
ENST00000682170.1:n.1752-76_1752-74del
ENST00000682767.1:n.868-76_868-74del
ENST00000316623.10:c.7571-76_7571-74del MANE Select	ENSP00000325527.5:n.7571-76_7571-74del
ENST00000674301.1:c.2737-76_2737-74del	ENSP00000501333.1:n.2737-76_2737-74del
ENST00000316623.9:c.7571-76_7571-74del	ENSP00000325527.5:n.7571-76_7571-74del
ENST00000559133.5:c.2940-76_2940-74del
NM_000138.4:c.7571-76_7571-74del , LRG_778t1:c.7571-76_7571-74del	NP_000129.3:n.7571-76_7571-74del
NM_000138.5:c.7571-76_7571-74del MANE Select	NP_000129.3:n.7571-76_7571-74del