Canonical Allele Identifier: CA2175509332

Gene: FBN1

Linked Data

• dbSNP Id: rs2043484338

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483801_48483802del , CM000677.2:g.48483801_48483802del	GRCh38
NC_000015.9:g.48775998_48775999del , CM000677.1:g.48775998_48775999del	GRCh37
NC_000015.8:g.46563290_46563291del	NCBI36
NG_008805.2:g.166988_166989del , LRG_778:g.166988_166989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3838+17_3838+18del	ENSP00000453958.2:n.3838+17_3838+18del
ENST00000674301.2:c.3838+17_3838+18del	ENSP00000501333.2:n.3838+17_3838+18del
ENST00000684448.1:n.2512+17_2512+18del
ENST00000316623.10:c.3838+17_3838+18del MANE Select	ENSP00000325527.5:n.3838+17_3838+18del
ENST00000316623.9:c.3838+17_3838+18del	ENSP00000325527.5:n.3838+17_3838+18del
ENST00000537463.6:c.637-9151_637-9150del	ENSP00000440294.2:n.637-9151_637-9150del
NM_000138.4:c.3838+17_3838+18del , LRG_778t1:c.3838+17_3838+18del	NP_000129.3:n.3838+17_3838+18del
NM_000138.5:c.3838+17_3838+18del MANE Select	NP_000129.3:n.3838+17_3838+18del