Canonical Allele Identifier: CA2175513614
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445279_48445280delinsCA , CM000677.2:g.48445279_48445280delinsCA GRCh38
NC_000015.9:g.48737476_48737477delinsCA , CM000677.1:g.48737476_48737477delinsCA GRCh37
NC_000015.8:g.46524768_46524769delinsCA NCBI36
NG_008805.2:g.205509_205510delinsTG , LRG_778:g.205509_205510delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+96_5917+97delinsTG ENSP00000453958.2:n.5917+96_5917+97delinsTG
ENST00000674301.2:c.5917+96_5917+97delinsTG ENSP00000501333.2:n.5917+96_5917+97delinsTG
ENST00000684448.1:n.4591+96_4591+97delinsTG
ENST00000316623.10:c.5917+96_5917+97delinsTG MANE Select ENSP00000325527.5:n.5917+96_5917+97delinsTG
ENST00000674301.1:c.916+96_916+97delinsTG ENSP00000501333.1:n.916+96_916+97delinsTG
ENST00000316623.9:c.5917+96_5917+97delinsTG ENSP00000325527.5:n.5917+96_5917+97delinsTG
ENST00000537463.6:c.*1680+96_*1680+97delinsTG ENSP00000440294.2:n.*1680+96_*1680+97delinsTG
ENST00000559133.5:c.1224+96_1224+97delinsTG
ENST00000560820.1:n.37+96_37+97delinsTG
NM_000138.4:c.5917+96_5917+97delinsTG , LRG_778t1:c.5917+96_5917+97delinsTG NP_000129.3:n.5917+96_5917+97delinsTG
NM_000138.5:c.5917+96_5917+97delinsTG MANE Select NP_000129.3:n.5917+96_5917+97delinsTG
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