Canonical Allele Identifier: CA617835380
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1451715264
gnomAD v2: 15-48776005-CT-C
gnomAD v4: 15-48483808-CT-C
MyVariant Identifiers: chr15:g.48776006del (hg19) chr15:g.48483809del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483811del , CM000677.2:g.48483811del GRCh38
NC_000015.9:g.48776008del , CM000677.1:g.48776008del GRCh37
NC_000015.8:g.46563300del NCBI36
NG_008805.2:g.166980del , LRG_778:g.166980del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+9del ENSP00000453958.2:n.3838+9del
ENST00000674301.2:c.3838+9del ENSP00000501333.2:n.3838+9del
ENST00000684448.1:n.2512+9del
ENST00000316623.10:c.3838+9del MANE Select ENSP00000325527.5:n.3838+9del
ENST00000316623.9:c.3838+9del ENSP00000325527.5:n.3838+9del
ENST00000537463.6:c.637-9159del ENSP00000440294.2:n.637-9159del
NM_000138.4:c.3838+9del , LRG_778t1:c.3838+9del NP_000129.3:n.3838+9del
NM_000138.5:c.3838+9del MANE Select NP_000129.3:n.3838+9del
Search 100 bp 5'
Search 100 bp 3'