Canonical Allele Identifier: CA2175513501
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043147480
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445197_48445198insGT , CM000677.2:g.48445197_48445198insGT GRCh38
NC_000015.9:g.48737394_48737395insGT , CM000677.1:g.48737394_48737395insGT GRCh37
NC_000015.8:g.46524686_46524687insGT NCBI36
NG_008805.2:g.205591_205592insAC , LRG_778:g.205591_205592insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+178_5917+179insAC ENSP00000453958.2:n.5917+178_5917+179insAC
ENST00000674301.2:c.5917+178_5917+179insAC ENSP00000501333.2:n.5917+178_5917+179insAC
ENST00000684448.1:n.4591+178_4591+179insAC
ENST00000316623.10:c.5917+178_5917+179insAC MANE Select ENSP00000325527.5:n.5917+178_5917+179insAC
ENST00000674301.1:c.916+178_916+179insAC ENSP00000501333.1:n.916+178_916+179insAC
ENST00000316623.9:c.5917+178_5917+179insAC ENSP00000325527.5:n.5917+178_5917+179insAC
ENST00000537463.6:c.*1680+178_*1680+179insAC ENSP00000440294.2:n.*1680+178_*1680+179insAC
ENST00000559133.5:c.1224+178_1224+179insAC
ENST00000560820.1:n.37+178_37+179insAC
NM_000138.4:c.5917+178_5917+179insAC , LRG_778t1:c.5917+178_5917+179insAC NP_000129.3:n.5917+178_5917+179insAC
NM_000138.5:c.5917+178_5917+179insAC MANE Select NP_000129.3:n.5917+178_5917+179insAC
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