Canonical Allele Identifier: CA2628347711
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48445645-G-GCATT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445645_48445646insCATT , CM000677.2:g.48445645_48445646insCATT GRCh38
NC_000015.9:g.48737842_48737843insCATT , CM000677.1:g.48737842_48737843insCATT GRCh37
NC_000015.8:g.46525134_46525135insCATT NCBI36
NG_008805.2:g.205143_205144insAATG , LRG_778:g.205143_205144insAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5789-142_5789-141insAATG ENSP00000453958.2:n.5789-142_5789-141insAATG
ENST00000674301.2:c.5789-142_5789-141insAATG ENSP00000501333.2:n.5789-142_5789-141insAATG
ENST00000684448.1:n.4463-142_4463-141insAATG
ENST00000316623.10:c.5789-142_5789-141insAATG MANE Select ENSP00000325527.5:n.5789-142_5789-141insAATG
ENST00000674301.1:c.788-142_788-141insAATG ENSP00000501333.1:n.788-142_788-141insAATG
ENST00000316623.9:c.5789-142_5789-141insAATG ENSP00000325527.5:n.5789-142_5789-141insAATG
ENST00000537463.6:c.*1552-142_*1552-141insAATG ENSP00000440294.2:n.*1552-142_*1552-141insAATG
ENST00000559133.5:c.1096-142_1096-141insAATG
NM_000138.4:c.5789-142_5789-141insAATG , LRG_778t1:c.5789-142_5789-141insAATG NP_000129.3:n.5789-142_5789-141insAATG
NM_000138.5:c.5789-142_5789-141insAATG MANE Select NP_000129.3:n.5789-142_5789-141insAATG
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