Canonical Allele Identifier: CA713403558
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1191560368
MyVariant Identifiers: chr15:g.48737379_48737380insTG (hg19) chr15:g.48445182_48445183insTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445184_48445185dup , CM000677.2:g.48445184_48445185dup GRCh38
NC_000015.9:g.48737381_48737382dup , CM000677.1:g.48737381_48737382dup GRCh37
NC_000015.8:g.46524673_46524674dup NCBI36
NG_008805.2:g.205605_205606dup , LRG_778:g.205605_205606dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+192_5917+193dup ENSP00000453958.2:n.5917+192_5917+193dup
ENST00000674301.2:c.5917+192_5917+193dup ENSP00000501333.2:n.5917+192_5917+193dup
ENST00000684448.1:n.4591+192_4591+193dup
ENST00000316623.10:c.5917+192_5917+193dup MANE Select ENSP00000325527.5:n.5917+192_5917+193dup
ENST00000674301.1:c.916+192_916+193dup ENSP00000501333.1:n.916+192_916+193dup
ENST00000316623.9:c.5917+192_5917+193dup ENSP00000325527.5:n.5917+192_5917+193dup
ENST00000537463.6:c.*1680+192_*1680+193dup ENSP00000440294.2:n.*1680+192_*1680+193dup
ENST00000559133.5:c.1224+192_1224+193dup
ENST00000560820.1:n.37+192_37+193dup
NM_000138.4:c.5917+192_5917+193dup , LRG_778t1:c.5917+192_5917+193dup NP_000129.3:n.5917+192_5917+193dup
NM_000138.5:c.5917+192_5917+193dup MANE Select NP_000129.3:n.5917+192_5917+193dup
Search 100 bp 5'
Search 100 bp 3'