Canonical Allele Identifier: CA969550508
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043145987
gnomAD v3: 15-48445173-C-CATATATATATGTAT
gnomAD v4: 15-48445173-C-CATATATATATGTAT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445183_48445196dup , CM000677.2:g.48445183_48445196dup GRCh38
NC_000015.9:g.48737380_48737393dup , CM000677.1:g.48737380_48737393dup GRCh37
NC_000015.8:g.46524672_46524685dup NCBI36
NG_008805.2:g.205602_205615dup , LRG_778:g.205602_205615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+189_5917+202dup ENSP00000453958.2:n.5917+189_5917+202dup
ENST00000674301.2:c.5917+189_5917+202dup ENSP00000501333.2:n.5917+189_5917+202dup
ENST00000684448.1:n.4591+189_4591+202dup
ENST00000316623.10:c.5917+189_5917+202dup MANE Select ENSP00000325527.5:n.5917+189_5917+202dup
ENST00000674301.1:c.916+189_916+202dup ENSP00000501333.1:n.916+189_916+202dup
ENST00000316623.9:c.5917+189_5917+202dup ENSP00000325527.5:n.5917+189_5917+202dup
ENST00000537463.6:c.*1680+189_*1680+202dup ENSP00000440294.2:n.*1680+189_*1680+202dup
ENST00000559133.5:c.1224+189_1224+202dup
ENST00000560820.1:n.37+189_37+202dup
NM_000138.4:c.5917+189_5917+202dup , LRG_778t1:c.5917+189_5917+202dup NP_000129.3:n.5917+189_5917+202dup
NM_000138.5:c.5917+189_5917+202dup MANE Select NP_000129.3:n.5917+189_5917+202dup
Search 100 bp 5'
Search 100 bp 3'