Canonical Allele Identifier: CA617836990
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1344539451
gnomAD v2: 15-48737344-TATATATATAC-T
gnomAD v3: 15-48445147-TATATATATAC-T
gnomAD v4: 15-48445147-TATATATATAC-T
MyVariant Identifiers: chr15:g.48737345_48737354del (hg19) chr15:g.48445148_48445157del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445157_48445166del , CM000677.2:g.48445157_48445166del GRCh38
NC_000015.9:g.48737354_48737363del , CM000677.1:g.48737354_48737363del GRCh37
NC_000015.8:g.46524646_46524655del NCBI36
NG_008805.2:g.205632_205641del , LRG_778:g.205632_205641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+219_5917+228del ENSP00000453958.2:n.5917+219_5917+228del
ENST00000674301.2:c.5917+219_5917+228del ENSP00000501333.2:n.5917+219_5917+228del
ENST00000684448.1:n.4591+219_4591+228del
ENST00000316623.10:c.5917+219_5917+228del MANE Select ENSP00000325527.5:n.5917+219_5917+228del
ENST00000674301.1:c.916+219_916+228del ENSP00000501333.1:n.916+219_916+228del
ENST00000316623.9:c.5917+219_5917+228del ENSP00000325527.5:n.5917+219_5917+228del
ENST00000537463.6:c.*1680+219_*1680+228del ENSP00000440294.2:n.*1680+219_*1680+228del
ENST00000559133.5:c.1224+219_1224+228del
ENST00000560820.1:n.37+219_37+228del
NM_000138.4:c.5917+219_5917+228del , LRG_778t1:c.5917+219_5917+228del NP_000129.3:n.5917+219_5917+228del
NM_000138.5:c.5917+219_5917+228del MANE Select NP_000129.3:n.5917+219_5917+228del
Search 100 bp 5'
Search 100 bp 3'