Canonical Allele Identifier: CA617837425
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446825_48446826insAAACCAGT , CM000677.2:g.48446825_48446826insAAACCAGT GRCh38
NC_000015.9:g.48739022_48739023insAAACCAGT , CM000677.1:g.48739022_48739023insAAACCAGT GRCh37
NC_000015.8:g.46526314_46526315insAAACCAGT NCBI36
NG_008805.2:g.203963_203964insACTGGTTT , LRG_778:g.203963_203964insACTGGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5672-4_5672-3insACTGGTTT ENSP00000453958.2:n.5672-4_5672-3insACTGGTTT
ENST00000674301.2:c.5672-4_5672-3insACTGGTTT ENSP00000501333.2:n.5672-4_5672-3insACTGGTTT
ENST00000684448.1:n.4346-4_4346-3insACTGGTTT
ENST00000316623.10:c.5672-4_5672-3insACTGGTTT MANE Select ENSP00000325527.5:n.5672-4_5672-3insACTGGTTT
ENST00000674301.1:c.671-4_671-3insACTGGTTT ENSP00000501333.1:n.671-4_671-3insACTGGTTT
ENST00000316623.9:c.5672-4_5672-3insACTGGTTT ENSP00000325527.5:n.5672-4_5672-3insACTGGTTT
ENST00000537463.6:c.*1435-4_*1435-3insACTGGTTT ENSP00000440294.2:n.*1435-4_*1435-3insACTGGTTT
ENST00000559133.5:c.979-4_979-3insACTGGTTT
NM_000138.4:c.5672-4_5672-3insACTGGTTT , LRG_778t1:c.5672-4_5672-3insACTGGTTT NP_000129.3:n.5672-4_5672-3insACTGGTTT
NM_000138.5:c.5672-4_5672-3insACTGGTTT MANE Select NP_000129.3:n.5672-4_5672-3insACTGGTTT