Canonical Allele Identifier: CA2175492119
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445332C= , CM000677.2:g.48445332C= GRCh38
NC_000015.9:g.48737529C= , CM000677.1:g.48737529C= GRCh37
NC_000015.8:g.46524821C= NCBI36
NG_008805.2:g.205457G= , LRG_778:g.205457G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+44G= ENSP00000453958.2:n.5917+44G=
ENST00000674301.2:c.5917+44G= ENSP00000501333.2:n.5917+44G=
ENST00000684448.1:n.4591+44G=
ENST00000316623.10:c.5917+44G= MANE Select ENSP00000325527.5:n.5917+44G=
ENST00000674301.1:c.916+44G= ENSP00000501333.1:n.916+44G=
ENST00000316623.9:c.5917+44G= ENSP00000325527.5:n.5917+44G=
ENST00000537463.6:c.*1680+44G= ENSP00000440294.2:n.*1680+44G=
ENST00000559133.5:c.1224+44G=
ENST00000560820.1:n.37+44G=
NM_000138.4:c.5917+44G= , LRG_778t1:c.5917+44G= NP_000129.3:n.5917+44G=
NM_000138.5:c.5917+44G= MANE Select NP_000129.3:n.5917+44G=
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