Canonical Allele Identifier: CA2741427199
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48513543_48513544insAG , CM000677.2:g.48513543_48513544insAG GRCh38
NC_000015.9:g.48805740_48805741insAG , CM000677.1:g.48805740_48805741insAG GRCh37
NC_000015.8:g.46593032_46593033insAG NCBI36
NG_008805.2:g.137245_137246insCT , LRG_778:g.137245_137246insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1588+5_1588+6insCT ENSP00000453958.2:n.1588+5_1588+6insCT
ENST00000674301.2:c.1588+5_1588+6insCT ENSP00000501333.2:n.1588+5_1588+6insCT
ENST00000684448.1:n.262+5_262+6insCT
ENST00000316623.10:c.1588+5_1588+6insCT MANE Select ENSP00000325527.5:n.1588+5_1588+6insCT
ENST00000316623.9:c.1588+5_1588+6insCT ENSP00000325527.5:n.1588+5_1588+6insCT
ENST00000537463.6:c.636+24167_636+24168insCT ENSP00000440294.2:n.636+24167_636+24168in...
NM_000138.4:c.1588+5_1588+6insCT , LRG_778t1:c.1588+5_1588+6insCT NP_000129.3:n.1588+5_1588+6insCT
NM_000138.5:c.1588+5_1588+6insCT MANE Select NP_000129.3:n.1588+5_1588+6insCT