Canonical Allele Identifier: CA2175495624
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474398_48474401delinsCATT , CM000677.2:g.48474398_48474401delinsCATT GRCh38
NC_000015.9:g.48766595_48766598delinsCATT , CM000677.1:g.48766595_48766598delinsCATT GRCh37
NC_000015.8:g.46553887_46553890delinsCATT NCBI36
NG_008805.2:g.176388_176391delinsAATG , LRG_778:g.176388_176391delinsAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-24_4088-21delinsAATG ENSP00000453958.2:n.4088-24_4088-21delinsAATG
ENST00000674301.2:c.4088-24_4088-21delinsAATG ENSP00000501333.2:n.4088-24_4088-21delinsAATG
ENST00000684448.1:n.2762-24_2762-21delinsAATG
ENST00000316623.10:c.4088-24_4088-21delinsAATG MANE Select ENSP00000325527.5:n.4088-24_4088-21delinsAATG
ENST00000316623.9:c.4088-24_4088-21delinsAATG ENSP00000325527.5:n.4088-24_4088-21delinsAATG
ENST00000537463.6:c.760-24_760-21delinsAATG ENSP00000440294.2:n.760-24_760-21delinsAATG
NM_000138.4:c.4088-24_4088-21delinsAATG , LRG_778t1:c.4088-24_4088-21delinsAATG NP_000129.3:n.4088-24_4088-21delinsAATG
NM_000138.5:c.4088-24_4088-21delinsAATG MANE Select NP_000129.3:n.4088-24_4088-21delinsAATG
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