Canonical Allele Identifier: CA2175496285
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474603_48474604delinsCA , CM000677.2:g.48474603_48474604delinsCA GRCh38
NC_000015.9:g.48766800_48766801delinsCA , CM000677.1:g.48766800_48766801delinsCA GRCh37
NC_000015.8:g.46554092_46554093delinsCA NCBI36
NG_008805.2:g.176185_176186delinsTG , LRG_778:g.176185_176186delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4011_4012delinsTG ENSP00000453958.2:p.Ala1337=
ENST00000674301.2:c.4011_4012delinsTG ENSP00000501333.2:p.Ala1337=
ENST00000684448.1:n.2685_2686delinsTG
ENST00000316623.10:c.4011_4012delinsTG MANE Select ENSP00000325527.5:p.Ala1337=
ENST00000316623.9:c.4011_4012delinsTG ENSP00000325527.5:p.Ala1337=
ENST00000537463.6:c.683_684delinsTG ENSP00000440294.2:p.Leu228=
NM_000138.4:c.4011_4012delinsTG , LRG_778t1:c.4011_4012delinsTG NP_000129.3:p.Ala1337=
NM_000138.5:c.4011_4012delinsTG MANE Select NP_000129.3:p.Ala1337=
Search 100 bp 5'
Search 100 bp 3'