Canonical Allele Identifier: CA2695220632
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474322_48474324del , CM000677.2:g.48474322_48474324del GRCh38
NC_000015.9:g.48766519_48766521del , CM000677.1:g.48766519_48766521del GRCh37
NC_000015.8:g.46553811_46553813del NCBI36
NG_008805.2:g.176467_176469del , LRG_778:g.176467_176469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4143_4145del ENSP00000453958.2:p.Lys1381del
ENST00000674301.2:c.4143_4145del ENSP00000501333.2:p.Lys1381del
ENST00000684448.1:n.2817_2819del
ENST00000316623.10:c.4143_4145del MANE Select ENSP00000325527.5:p.Lys1381del
ENST00000316623.9:c.4143_4145del ENSP00000325527.5:p.Lys1381del
ENST00000537463.6:c.815_817del ENSP00000440294.2:p.Arg272del
NM_000138.4:c.4143_4145del , LRG_778t1:c.4143_4145del NP_000129.3:p.Lys1381del
NM_000138.5:c.4143_4145del MANE Select NP_000129.3:p.Lys1381del
Search 100 bp 5'
Search 100 bp 3'