Canonical Allele Identifier: CA2175521601
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490039_48490046delinsTCGTCCTC , CM000677.2:g.48490039_48490046delinsTCGTCCTC GRCh38
NC_000015.9:g.48782236_48782243delinsTCGTCCTC , CM000677.1:g.48782236_48782243delinsTCGTCCTC GRCh37
NC_000015.8:g.46569528_46569535delinsTCGTCCTC NCBI36
NG_008805.2:g.160743_160750delinsGAGGACGA , LRG_778:g.160743_160750delinsGAGGACGA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2887_2894delinsGAGGACGA ENSP00000453958.2:p.Glu963=
ENST00000674301.2:c.2887_2894delinsGAGGACGA ENSP00000501333.2:p.Glu963=
ENST00000684448.1:n.1561_1568delinsGAGGACGA
ENST00000316623.10:c.2887_2894delinsGAGGACGA MANE Select ENSP00000325527.5:p.Glu963=
ENST00000316623.9:c.2887_2894delinsGAGGACGA ENSP00000325527.5:p.Glu963=
ENST00000537463.6:c.637-15396_637-15389delinsGAGGACGA ENSP00000440294.2:n.637-15396_637-15389delinsGAGGACGA
NM_000138.4:c.2887_2894delinsGAGGACGA , LRG_778t1:c.2887_2894delinsGAGGACGA NP_000129.3:p.Glu963=
NM_000138.5:c.2887_2894delinsGAGGACGA MANE Select NP_000129.3:p.Glu963=
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