Canonical Allele Identifier: CA2175513350
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043146130
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445184_48445193del , CM000677.2:g.48445184_48445193del GRCh38
NC_000015.9:g.48737381_48737390del , CM000677.1:g.48737381_48737390del GRCh37
NC_000015.8:g.46524673_46524682del NCBI36
NG_008805.2:g.205605_205614del , LRG_778:g.205605_205614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+192_5917+201del ENSP00000453958.2:n.5917+192_5917+201del
ENST00000674301.2:c.5917+192_5917+201del ENSP00000501333.2:n.5917+192_5917+201del
ENST00000684448.1:n.4591+192_4591+201del
ENST00000316623.10:c.5917+192_5917+201del MANE Select ENSP00000325527.5:n.5917+192_5917+201del
ENST00000674301.1:c.916+192_916+201del ENSP00000501333.1:n.916+192_916+201del
ENST00000316623.9:c.5917+192_5917+201del ENSP00000325527.5:n.5917+192_5917+201del
ENST00000537463.6:c.*1680+192_*1680+201del ENSP00000440294.2:n.*1680+192_*1680+201del
ENST00000559133.5:c.1224+192_1224+201del
ENST00000560820.1:n.37+192_37+201del
NM_000138.4:c.5917+192_5917+201del , LRG_778t1:c.5917+192_5917+201del NP_000129.3:n.5917+192_5917+201del
NM_000138.5:c.5917+192_5917+201del MANE Select NP_000129.3:n.5917+192_5917+201del
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