Canonical Allele Identifier: CA2175513071
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1004604996
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445137_48445146del , CM000677.2:g.48445137_48445146del GRCh38
NC_000015.9:g.48737334_48737343del , CM000677.1:g.48737334_48737343del GRCh37
NC_000015.8:g.46524626_46524635del NCBI36
NG_008805.2:g.205644_205653del , LRG_778:g.205644_205653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+231_5917+240del ENSP00000453958.2:n.5917+231_5917+240del
ENST00000674301.2:c.5917+231_5917+240del ENSP00000501333.2:n.5917+231_5917+240del
ENST00000684448.1:n.4591+231_4591+240del
ENST00000316623.10:c.5917+231_5917+240del MANE Select ENSP00000325527.5:n.5917+231_5917+240del
ENST00000674301.1:c.916+231_916+240del ENSP00000501333.1:n.916+231_916+240del
ENST00000316623.9:c.5917+231_5917+240del ENSP00000325527.5:n.5917+231_5917+240del
ENST00000537463.6:c.*1680+231_*1680+240del ENSP00000440294.2:n.*1680+231_*1680+240del
ENST00000559133.5:c.1224+231_1224+240del
ENST00000560820.1:n.37+231_37+240del
NM_000138.4:c.5917+231_5917+240del , LRG_778t1:c.5917+231_5917+240del NP_000129.3:n.5917+231_5917+240del
NM_000138.5:c.5917+231_5917+240del MANE Select NP_000129.3:n.5917+231_5917+240del
Search 100 bp 5'
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