Canonical Allele Identifier: CA490014689
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766458_48766459insT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474261_48474262insT , CM000677.2:g.48474261_48474262insT GRCh38
NC_000015.9:g.48766458_48766459insT , CM000677.1:g.48766458_48766459insT GRCh37
NC_000015.8:g.46553750_46553751insT NCBI36
NG_008805.2:g.176527_176528insA , LRG_778:g.176527_176528insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4203_4204insA ENSP00000453958.2:p.Cys1402MetfsTer5
ENST00000674301.2:c.4203_4204insA ENSP00000501333.2:p.Cys1402MetfsTer5
ENST00000684448.1:n.2877_2878insA
ENST00000316623.10:c.4203_4204insA MANE Select ENSP00000325527.5:p.Cys1402MetfsTer5
ENST00000316623.9:c.4203_4204insA ENSP00000325527.5:p.Cys1402MetfsTer5
ENST00000537463.6:c.875_876insA ENSP00000440294.2:p.Val293CysfsTer?
NM_000138.4:c.4203_4204insA , LRG_778t1:c.4203_4204insA NP_000129.3:p.Cys1402MetfsTer5
NM_000138.5:c.4203_4204insA MANE Select NP_000129.3:p.Cys1402MetfsTer5
Search 100 bp 5'
Search 100 bp 3'