Canonical Allele Identifier: CA2175495620
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474397_48474398delinsTC , CM000677.2:g.48474397_48474398delinsTC GRCh38
NC_000015.9:g.48766594_48766595delinsTC , CM000677.1:g.48766594_48766595delinsTC GRCh37
NC_000015.8:g.46553886_46553887delinsTC NCBI36
NG_008805.2:g.176391_176392delinsGA , LRG_778:g.176391_176392delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-21_4088-20delinsGA ENSP00000453958.2:n.4088-21_4088-20delinsGA
ENST00000674301.2:c.4088-21_4088-20delinsGA ENSP00000501333.2:n.4088-21_4088-20delinsGA
ENST00000684448.1:n.2762-21_2762-20delinsGA
ENST00000316623.10:c.4088-21_4088-20delinsGA MANE Select ENSP00000325527.5:n.4088-21_4088-20delinsGA
ENST00000316623.9:c.4088-21_4088-20delinsGA ENSP00000325527.5:n.4088-21_4088-20delinsGA
ENST00000537463.6:c.760-21_760-20delinsGA ENSP00000440294.2:n.760-21_760-20delinsGA
NM_000138.4:c.4088-21_4088-20delinsGA , LRG_778t1:c.4088-21_4088-20delinsGA NP_000129.3:n.4088-21_4088-20delinsGA
NM_000138.5:c.4088-21_4088-20delinsGA MANE Select NP_000129.3:n.4088-21_4088-20delinsGA
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