Canonical Allele Identifier: CA713403527
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs769085069
gnomAD v3: 15-48445167-T-TAC
gnomAD v4: 15-48445167-T-TAC
MyVariant Identifiers: chr15:g.48737364_48737365insAC (hg19) chr15:g.48445167_48445168insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445173_48445174dup , CM000677.2:g.48445173_48445174dup GRCh38
NC_000015.9:g.48737370_48737371dup , CM000677.1:g.48737370_48737371dup GRCh37
NC_000015.8:g.46524662_46524663dup NCBI36
NG_008805.2:g.205620_205621dup , LRG_778:g.205620_205621dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+207_5917+208dup ENSP00000453958.2:n.5917+207_5917+208dup
ENST00000674301.2:c.5917+207_5917+208dup ENSP00000501333.2:n.5917+207_5917+208dup
ENST00000684448.1:n.4591+207_4591+208dup
ENST00000316623.10:c.5917+207_5917+208dup MANE Select ENSP00000325527.5:n.5917+207_5917+208dup
ENST00000674301.1:c.916+207_916+208dup ENSP00000501333.1:n.916+207_916+208dup
ENST00000316623.9:c.5917+207_5917+208dup ENSP00000325527.5:n.5917+207_5917+208dup
ENST00000537463.6:c.*1680+207_*1680+208dup ENSP00000440294.2:n.*1680+207_*1680+208dup
ENST00000559133.5:c.1224+207_1224+208dup
ENST00000560820.1:n.37+207_37+208dup
NM_000138.4:c.5917+207_5917+208dup , LRG_778t1:c.5917+207_5917+208dup NP_000129.3:n.5917+207_5917+208dup
NM_000138.5:c.5917+207_5917+208dup MANE Select NP_000129.3:n.5917+207_5917+208dup
Search 100 bp 5'
Search 100 bp 3'