Canonical Allele Identifier: CA2175496176
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474585_48474586delinsCT , CM000677.2:g.48474585_48474586delinsCT GRCh38
NC_000015.9:g.48766782_48766783delinsCT , CM000677.1:g.48766782_48766783delinsCT GRCh37
NC_000015.8:g.46554074_46554075delinsCT NCBI36
NG_008805.2:g.176203_176204delinsAG , LRG_778:g.176203_176204delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4029_4030delinsAG ENSP00000453958.2:p.Ala1343=
ENST00000674301.2:c.4029_4030delinsAG ENSP00000501333.2:p.Ala1343=
ENST00000684448.1:n.2703_2704delinsAG
ENST00000316623.10:c.4029_4030delinsAG MANE Select ENSP00000325527.5:p.Ala1343=
ENST00000316623.9:c.4029_4030delinsAG ENSP00000325527.5:p.Ala1343=
ENST00000537463.6:c.701_702delinsAG ENSP00000440294.2:p.Gln234=
NM_000138.4:c.4029_4030delinsAG , LRG_778t1:c.4029_4030delinsAG NP_000129.3:p.Ala1343=
NM_000138.5:c.4029_4030delinsAG MANE Select NP_000129.3:p.Ala1343=
Search 100 bp 5'
Search 100 bp 3'