Canonical Allele Identifier: CA2175513123
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445145_48445146delinsCA , CM000677.2:g.48445145_48445146delinsCA GRCh38
NC_000015.9:g.48737342_48737343delinsCA , CM000677.1:g.48737342_48737343delinsCA GRCh37
NC_000015.8:g.46524634_46524635delinsCA NCBI36
NG_008805.2:g.205643_205644delinsTG , LRG_778:g.205643_205644delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+230_5917+231delinsTG ENSP00000453958.2:n.5917+230_5917+231delinsTG
ENST00000674301.2:c.5917+230_5917+231delinsTG ENSP00000501333.2:n.5917+230_5917+231delinsTG
ENST00000684448.1:n.4591+230_4591+231delinsTG
ENST00000316623.10:c.5917+230_5917+231delinsTG MANE Select ENSP00000325527.5:n.5917+230_5917+231delinsTG
ENST00000674301.1:c.916+230_916+231delinsTG ENSP00000501333.1:n.916+230_916+231delinsTG
ENST00000316623.9:c.5917+230_5917+231delinsTG ENSP00000325527.5:n.5917+230_5917+231delinsTG
ENST00000537463.6:c.*1680+230_*1680+231delinsTG ENSP00000440294.2:n.*1680+230_*1680+231delinsTG
ENST00000559133.5:c.1224+230_1224+231delinsTG
ENST00000560820.1:n.37+230_37+231delinsTG
NM_000138.4:c.5917+230_5917+231delinsTG , LRG_778t1:c.5917+230_5917+231delinsTG NP_000129.3:n.5917+230_5917+231delinsTG
NM_000138.5:c.5917+230_5917+231delinsTG MANE Select NP_000129.3:n.5917+230_5917+231delinsTG
Search 100 bp 5'
Search 100 bp 3'