Canonical Allele Identifier: CA051237
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs749393801
ExAC: 15:48777743 TC / T
gnomAD v2: 15-48777743-TC-T
gnomAD v3: 15-48485546-TC-T
gnomAD v4: 15-48485546-TC-T
MyVariant Identifiers: chr15:g.48777744del (hg19) chr15:g.48485547del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485550del , CM000677.2:g.48485550del GRCh38
NC_000015.9:g.48777747del , CM000677.1:g.48777747del GRCh37
NC_000015.8:g.46565039del NCBI36
NG_008805.2:g.165242del , LRG_778:g.165242del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3590-51del ENSP00000453958.2:n.3590-51del
ENST00000674301.2:c.3590-51del ENSP00000501333.2:n.3590-51del
ENST00000684448.1:n.2264-51del
ENST00000316623.10:c.3590-51del MANE Select ENSP00000325527.5:n.3590-51del
ENST00000316623.9:c.3590-51del ENSP00000325527.5:n.3590-51del
ENST00000537463.6:c.637-10897del ENSP00000440294.2:n.637-10897del
NM_000138.4:c.3590-51del , LRG_778t1:c.3590-51del NP_000129.3:n.3590-51del
NM_000138.5:c.3590-51del MANE Select NP_000129.3:n.3590-51del
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