Canonical Allele Identifier: CA969555182

Gene: FBN1

Linked Data

• dbSNP Id: rs2043484407
• gnomAD v3: 15-48483805-CTTCT-C
• gnomAD v4: 15-48483805-CTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483808_48483811del , CM000677.2:g.48483808_48483811del	GRCh38
NC_000015.9:g.48776005_48776008del , CM000677.1:g.48776005_48776008del	GRCh37
NC_000015.8:g.46563297_46563300del	NCBI36
NG_008805.2:g.166980_166983del , LRG_778:g.166980_166983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3838+9_3838+12del	ENSP00000453958.2:n.3838+9_3838+12del
ENST00000674301.2:c.3838+9_3838+12del	ENSP00000501333.2:n.3838+9_3838+12del
ENST00000684448.1:n.2512+9_2512+12del
ENST00000316623.10:c.3838+9_3838+12del MANE Select	ENSP00000325527.5:n.3838+9_3838+12del
ENST00000316623.9:c.3838+9_3838+12del	ENSP00000325527.5:n.3838+9_3838+12del
ENST00000537463.6:c.637-9159_637-9156del	ENSP00000440294.2:n.637-9159_637-9156del
NM_000138.4:c.3838+9_3838+12del , LRG_778t1:c.3838+9_3838+12del	NP_000129.3:n.3838+9_3838+12del
NM_000138.5:c.3838+9_3838+12del MANE Select	NP_000129.3:n.3838+9_3838+12del