Canonical Allele Identifier: CA713393831
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1349995107
gnomAD v3: 15-48445315-ATGAT-A
gnomAD v4: 15-48445315-ATGAT-A
MyVariant Identifiers: chr15:g.48737513_48737516del (hg19) chr15:g.48445316_48445319del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445317_48445320del , CM000677.2:g.48445317_48445320del GRCh38
NC_000015.9:g.48737514_48737517del , CM000677.1:g.48737514_48737517del GRCh37
NC_000015.8:g.46524806_46524809del NCBI36
NG_008805.2:g.205470_205473del , LRG_778:g.205470_205473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+57_5917+60del ENSP00000453958.2:n.5917+57_5917+60del
ENST00000674301.2:c.5917+57_5917+60del ENSP00000501333.2:n.5917+57_5917+60del
ENST00000684448.1:n.4591+57_4591+60del
ENST00000316623.10:c.5917+57_5917+60del MANE Select ENSP00000325527.5:n.5917+57_5917+60del
ENST00000674301.1:c.916+57_916+60del ENSP00000501333.1:n.916+57_916+60del
ENST00000316623.9:c.5917+57_5917+60del ENSP00000325527.5:n.5917+57_5917+60del
ENST00000537463.6:c.*1680+57_*1680+60del ENSP00000440294.2:n.*1680+57_*1680+60del
ENST00000559133.5:c.1224+57_1224+60del
ENST00000560820.1:n.37+57_37+60del
NM_000138.4:c.5917+57_5917+60del , LRG_778t1:c.5917+57_5917+60del NP_000129.3:n.5917+57_5917+60del
NM_000138.5:c.5917+57_5917+60del MANE Select NP_000129.3:n.5917+57_5917+60del
Search 100 bp 5'
Search 100 bp 3'