Canonical Allele Identifier: CA2175512962
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445119_48445123delinsTACAC , CM000677.2:g.48445119_48445123delinsTACAC GRCh38
NC_000015.9:g.48737316_48737320delinsTACAC , CM000677.1:g.48737316_48737320delinsTACAC GRCh37
NC_000015.8:g.46524608_46524612delinsTACAC NCBI36
NG_008805.2:g.205666_205670delinsGTGTA , LRG_778:g.205666_205670delinsGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+253_5917+257delinsGTGTA ENSP00000453958.2:n.5917+253_5917+257delinsGTGTA
ENST00000674301.2:c.5917+253_5917+257delinsGTGTA ENSP00000501333.2:n.5917+253_5917+257delinsGTGTA
ENST00000684448.1:n.4591+253_4591+257delinsGTGTA
ENST00000316623.10:c.5917+253_5917+257delinsGTGTA MANE Select ENSP00000325527.5:n.5917+253_5917+257delinsGTGTA
ENST00000674301.1:c.916+253_916+257delinsGTGTA ENSP00000501333.1:n.916+253_916+257delinsGTGTA
ENST00000316623.9:c.5917+253_5917+257delinsGTGTA ENSP00000325527.5:n.5917+253_5917+257delinsGTGTA
ENST00000537463.6:c.*1680+253_*1680+257delinsGTGTA ENSP00000440294.2:n.*1680+253_*1680+257delinsGTGTA
ENST00000559133.5:c.1224+253_1224+257delinsGTGTA
ENST00000560820.1:n.37+253_37+257delinsGTGTA
NM_000138.4:c.5917+253_5917+257delinsGTGTA , LRG_778t1:c.5917+253_5917+257delinsGTGTA NP_000129.3:n.5917+253_5917+257delinsGTGTA
NM_000138.5:c.5917+253_5917+257delinsGTGTA MANE Select NP_000129.3:n.5917+253_5917+257delinsGTGTA
Search 100 bp 5'
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