Canonical Allele Identifier: CA2175509340
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483808_48483809delinsCT , CM000677.2:g.48483808_48483809delinsCT GRCh38
NC_000015.9:g.48776005_48776006delinsCT , CM000677.1:g.48776005_48776006delinsCT GRCh37
NC_000015.8:g.46563297_46563298delinsCT NCBI36
NG_008805.2:g.166980_166981delinsAG , LRG_778:g.166980_166981delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+9_3838+10delinsAG ENSP00000453958.2:n.3838+9_3838+10delinsA...
ENST00000674301.2:c.3838+9_3838+10delinsAG ENSP00000501333.2:n.3838+9_3838+10delinsA...
ENST00000684448.1:n.2512+9_2512+10delinsAG
ENST00000316623.10:c.3838+9_3838+10delinsAG MANE Select ENSP00000325527.5:n.3838+9_3838+10delinsA...
ENST00000316623.9:c.3838+9_3838+10delinsAG ENSP00000325527.5:n.3838+9_3838+10delinsA...
ENST00000537463.6:c.637-9159_637-9158delinsAG ENSP00000440294.2:n.637-9159_637-9158deli...
NM_000138.4:c.3838+9_3838+10delinsAG , LRG_778t1:c.3838+9_3838+10delinsAG NP_000129.3:n.3838+9_3838+10delinsAG
NM_000138.5:c.3838+9_3838+10delinsAG MANE Select NP_000129.3:n.3838+9_3838+10delinsAG
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