Canonical Allele Identifier: CA969550492
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043145728
gnomAD v3: 15-48445169-CACACATATATATATGTATATATATAT-C
gnomAD v4: 15-48445169-CACACATATATATATGTATATATATAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445173_48445198del , CM000677.2:g.48445173_48445198del GRCh38
NC_000015.9:g.48737370_48737395del , CM000677.1:g.48737370_48737395del GRCh37
NC_000015.8:g.46524662_46524687del NCBI36
NG_008805.2:g.205594_205619del , LRG_778:g.205594_205619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+181_5917+206del ENSP00000453958.2:n.5917+181_5917+206del
ENST00000674301.2:c.5917+181_5917+206del ENSP00000501333.2:n.5917+181_5917+206del
ENST00000684448.1:n.4591+181_4591+206del
ENST00000316623.10:c.5917+181_5917+206del MANE Select ENSP00000325527.5:n.5917+181_5917+206del
ENST00000674301.1:c.916+181_916+206del ENSP00000501333.1:n.916+181_916+206del
ENST00000316623.9:c.5917+181_5917+206del ENSP00000325527.5:n.5917+181_5917+206del
ENST00000537463.6:c.*1680+181_*1680+206del ENSP00000440294.2:n.*1680+181_*1680+206del
ENST00000559133.5:c.1224+181_1224+206del
ENST00000560820.1:n.37+181_37+206del
NM_000138.4:c.5917+181_5917+206del , LRG_778t1:c.5917+181_5917+206del NP_000129.3:n.5917+181_5917+206del
NM_000138.5:c.5917+181_5917+206del MANE Select NP_000129.3:n.5917+181_5917+206del
Search 100 bp 5'
Search 100 bp 3'