Canonical Allele Identifier: CA969550521

Gene: FBN1

Linked Data

• dbSNP Id: rs2043146267
• gnomAD v3: 15-48445180-ATATG-A
• gnomAD v4: 15-48445180-ATATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445184_48445187del , CM000677.2:g.48445184_48445187del	GRCh38
NC_000015.9:g.48737381_48737384del , CM000677.1:g.48737381_48737384del	GRCh37
NC_000015.8:g.46524673_46524676del	NCBI36
NG_008805.2:g.205605_205608del , LRG_778:g.205605_205608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+192_5917+195del	ENSP00000453958.2:n.5917+192_5917+195del
ENST00000674301.2:c.5917+192_5917+195del	ENSP00000501333.2:n.5917+192_5917+195del
ENST00000684448.1:n.4591+192_4591+195del
ENST00000316623.10:c.5917+192_5917+195del MANE Select	ENSP00000325527.5:n.5917+192_5917+195del
ENST00000674301.1:c.916+192_916+195del	ENSP00000501333.1:n.916+192_916+195del
ENST00000316623.9:c.5917+192_5917+195del	ENSP00000325527.5:n.5917+192_5917+195del
ENST00000537463.6:c.*1680+192_*1680+195del	ENSP00000440294.2:n.*1680+192_*1680+195del
ENST00000559133.5:c.1224+192_1224+195del
ENST00000560820.1:n.37+192_37+195del
NM_000138.4:c.5917+192_5917+195del , LRG_778t1:c.5917+192_5917+195del	NP_000129.3:n.5917+192_5917+195del
NM_000138.5:c.5917+192_5917+195del MANE Select	NP_000129.3:n.5917+192_5917+195del