Canonical Allele Identifier: CA16614669
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48505096_48505097delinsG , CM000677.2:g.48505096_48505097delinsG GRCh38
NC_000015.9:g.48797293_48797294delinsG , CM000677.1:g.48797293_48797294delinsG GRCh37
NC_000015.8:g.46584585_46584586delinsG NCBI36
NG_008805.2:g.145692_145693delinsC , LRG_778:g.145692_145693delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1888_1889delinsC ENSP00000453958.2:p.Asn630ProfsTer?
ENST00000674301.2:c.1888_1889delinsC ENSP00000501333.2:p.Asn630ProfsTer?
ENST00000684448.1:n.562_563delinsC
ENST00000316623.10:c.1888_1889delinsC MANE Select ENSP00000325527.5:p.Asn630ProfsTer?
ENST00000316623.9:c.1888_1889delinsC ENSP00000325527.5:p.Asn630ProfsTer?
ENST00000537463.6:c.637-30447_637-30446delinsC ENSP00000440294.2:n.637-30447_637-30446delinsC
NM_000138.4:c.1888_1889delinsC , LRG_778t1:c.1888_1889delinsC NP_000129.3:p.Asn630ProfsTer?
NM_000138.5:c.1888_1889delinsC MANE Select NP_000129.3:p.Asn630ProfsTer?
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