Canonical Allele Identifier: CA269532531
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs769085069
gnomAD v2: 15-48737364-TAC-T
gnomAD v3: 15-48445167-TAC-T
gnomAD v4: 15-48445167-TAC-T
MyVariant Identifiers: chr15:g.48737365_48737366del (hg19) chr15:g.48445168_48445169del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445173_48445174del , CM000677.2:g.48445173_48445174del GRCh38
NC_000015.9:g.48737370_48737371del , CM000677.1:g.48737370_48737371del GRCh37
NC_000015.8:g.46524662_46524663del NCBI36
NG_008805.2:g.205620_205621del , LRG_778:g.205620_205621del

Transcript Alleles

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