Canonical Allele Identifier: CA915946000
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817235
ClinVar RCV Id: RCV001008348
dbSNP Id: rs1597554086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474593_48474594insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT , CM000677.2:g.48474593_48474594insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT GRCh38
NC_000015.9:g.48766790_48766791insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT , CM000677.1:g.48766790_48766791insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT GRCh37
NC_000015.8:g.46554082_46554083insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT NCBI36
NG_008805.2:g.176210_176211insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT , LRG_778:g.176210_176211insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT ENSP00000453958.2:p.Phe1346TyrfsTer3
ENST00000674301.2:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT ENSP00000501333.2:p.Phe1346TyrfsTer3
ENST00000684448.1:n.2710_2711insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT
ENST00000316623.10:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT MANE Select ENSP00000325527.5:p.Phe1346TyrfsTer3
ENST00000316623.9:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT ENSP00000325527.5:p.Phe1346TyrfsTer3
ENST00000537463.6:c.708_709insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT ENSP00000440294.2:p.Ser237ThrfsTer18
NM_000138.4:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT , LRG_778t1:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT NP_000129.3:p.Phe1346TyrfsTer3
NM_000138.5:c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT MANE Select NP_000129.3:p.Phe1346TyrfsTer3
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