Canonical Allele Identifier: CA969540704

Gene: FBN1

Linked Data

• dbSNP Id: rs2042944970
• gnomAD v3: 15-48421846-ATTTC-A
• gnomAD v4: 15-48421846-ATTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421850_48421853del , CM000677.2:g.48421850_48421853del	GRCh38
NC_000015.9:g.48714047_48714050del , CM000677.1:g.48714047_48714050del	GRCh37
NC_000015.8:g.46501339_46501342del	NCBI36
NG_008805.2:g.228939_228942del , LRG_778:g.228939_228942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+102_*378+105del	ENSP00000453958.2:n.*378+102_*378+105del
ENST00000674301.2:c.*1083+102_*1083+105del	ENSP00000501333.2:n.*1083+102_*1083+105del
ENST00000682170.1:n.1751+102_1751+105del
ENST00000682767.1:n.867+102_867+105del
ENST00000316623.10:c.7570+102_7570+105del MANE Select	ENSP00000325527.5:n.7570+102_7570+105del
ENST00000674301.1:c.2736+102_2736+105del	ENSP00000501333.1:n.2736+102_2736+105del
ENST00000316623.9:c.7570+102_7570+105del	ENSP00000325527.5:n.7570+102_7570+105del
ENST00000559133.5:c.2939+102_2939+105del
NM_000138.4:c.7570+102_7570+105del , LRG_778t1:c.7570+102_7570+105del	NP_000129.3:n.7570+102_7570+105del
NM_000138.5:c.7570+102_7570+105del MANE Select	NP_000129.3:n.7570+102_7570+105del