Canonical Allele Identifier: CA2695220186
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441717_48441720del , CM000677.2:g.48441717_48441720del GRCh38
NC_000015.9:g.48733914_48733917del , CM000677.1:g.48733914_48733917del GRCh37
NC_000015.8:g.46521206_46521209del NCBI36
NG_008805.2:g.209071_209074del , LRG_778:g.209071_209074del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6163+3_6163+6del ENSP00000453958.2:n.6163+3_6163+6del
ENST00000674301.2:c.6163+3_6163+6del ENSP00000501333.2:n.6163+3_6163+6del
ENST00000316623.10:c.6163+3_6163+6del MANE Select ENSP00000325527.5:n.6163+3_6163+6del
ENST00000674301.1:c.1162+3_1162+6del ENSP00000501333.1:n.1162+3_1162+6del
ENST00000316623.9:c.6163+3_6163+6del ENSP00000325527.5:n.6163+3_6163+6del
ENST00000537463.6:c.*1926+3_*1926+6del ENSP00000440294.2:n.*1926+3_*1926+6del
ENST00000559133.5:c.1470+3_1470+6del
ENST00000560820.1:n.283+3_283+6del
NM_000138.4:c.6163+3_6163+6del , LRG_778t1:c.6163+3_6163+6del NP_000129.3:n.6163+3_6163+6del
NM_000138.5:c.6163+3_6163+6del MANE Select NP_000129.3:n.6163+3_6163+6del
Search 100 bp 5'
Search 100 bp 3'