Canonical Allele Identifier: CA2175509335
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483805_48483809delinsCTTCT , CM000677.2:g.48483805_48483809delinsCTTCT GRCh38
NC_000015.9:g.48776002_48776006delinsCTTCT , CM000677.1:g.48776002_48776006delinsCTTCT GRCh37
NC_000015.8:g.46563294_46563298delinsCTTCT NCBI36
NG_008805.2:g.166980_166984delinsAGAAG , LRG_778:g.166980_166984delinsAGAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+9_3838+13delinsAGAAG ENSP00000453958.2:n.3838+9_3838+13delinsA...
ENST00000674301.2:c.3838+9_3838+13delinsAGAAG ENSP00000501333.2:n.3838+9_3838+13delinsA...
ENST00000684448.1:n.2512+9_2512+13delinsAGAAG
ENST00000316623.10:c.3838+9_3838+13delinsAGAAG MANE Select ENSP00000325527.5:n.3838+9_3838+13delinsA...
ENST00000316623.9:c.3838+9_3838+13delinsAGAAG ENSP00000325527.5:n.3838+9_3838+13delinsA...
ENST00000537463.6:c.637-9159_637-9155delinsAGAAG ENSP00000440294.2:n.637-9159_637-9155deli...
NM_000138.4:c.3838+9_3838+13delinsAGAAG , LRG_778t1:c.3838+9_3838+13delinsAGAAG NP_000129.3:n.3838+9_3838+13delinsAGAAG
NM_000138.5:c.3838+9_3838+13delinsAGAAG MANE Select NP_000129.3:n.3838+9_3838+13delinsAGAAG
Search 100 bp 5'
Search 100 bp 3'