Canonical Allele Identifier: CA2628334338
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48468061-CTCGAGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468066_48468071del , CM000677.2:g.48468066_48468071del GRCh38
NC_000015.9:g.48760263_48760268del , CM000677.1:g.48760263_48760268del GRCh37
NC_000015.8:g.46547555_46547560del NCBI36
NG_008805.2:g.182722_182727del , LRG_778:g.182722_182727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4618_4623del ENSP00000453958.2:p.Pro1540_Arg1541del
ENST00000674301.2:c.4618_4623del ENSP00000501333.2:p.Pro1540_Arg1541del
ENST00000684448.1:n.3292_3297del
ENST00000316623.10:c.4618_4623del MANE Select ENSP00000325527.5:p.Pro1540_Arg1541del
ENST00000316623.9:c.4618_4623del ENSP00000325527.5:p.Pro1540_Arg1541del
ENST00000537463.6:c.*381_*386del ENSP00000440294.2:n.*381_*386del
NM_000138.4:c.4618_4623del , LRG_778t1:c.4618_4623del NP_000129.3:p.Pro1540_Arg1541del
NM_000138.5:c.4618_4623del MANE Select NP_000129.3:p.Pro1540_Arg1541del
Search 100 bp 5'
Search 100 bp 3'