Canonical Allele Identifier: CA2175518406
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468413_48468415delinsAAC , CM000677.2:g.48468413_48468415delinsAAC GRCh38
NC_000015.9:g.48760610_48760612delinsAAC , CM000677.1:g.48760610_48760612delinsAAC GRCh37
NC_000015.8:g.46547902_46547904delinsAAC NCBI36
NG_008805.2:g.182374_182376delinsGTT , LRG_778:g.182374_182376delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4579_4581delinsGTT ENSP00000453958.2:p.Val1527=
ENST00000674301.2:c.4579_4581delinsGTT ENSP00000501333.2:p.Val1527=
ENST00000684448.1:n.3253_3255delinsGTT
ENST00000316623.10:c.4579_4581delinsGTT MANE Select ENSP00000325527.5:p.Val1527=
ENST00000316623.9:c.4579_4581delinsGTT ENSP00000325527.5:p.Val1527=
ENST00000537463.6:c.*342_*344delinsGTT ENSP00000440294.2:n.*342_*344delinsGTT
NM_000138.4:c.4579_4581delinsGTT , LRG_778t1:c.4579_4581delinsGTT NP_000129.3:p.Val1527=
NM_000138.5:c.4579_4581delinsGTT MANE Select NP_000129.3:p.Val1527=
Search 100 bp 5'
Search 100 bp 3'