Canonical Allele Identifier: CA713392304

Gene: FBN1

Linked Data

• dbSNP Id: rs1316872485
• MyVariant Identifiers: chr15:g.48720932_48720935del (hg19) ; chr15:g.48428735_48428738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428737_48428740del , CM000677.2:g.48428737_48428740del	GRCh38
NC_000015.9:g.48720934_48720937del , CM000677.1:g.48720934_48720937del	GRCh37
NC_000015.8:g.46508226_46508229del	NCBI36
NG_008805.2:g.222051_222054del , LRG_778:g.222051_222054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-267_6872-264del	ENSP00000453958.2:n.6872-267_6872-264del
ENST00000674301.2:c.*323-267_*323-264del	ENSP00000501333.2:n.*323-267_*323-264del
ENST00000682170.1:n.481-267_481-264del
ENST00000316623.10:c.6872-267_6872-264del MANE Select	ENSP00000325527.5:n.6872-267_6872-264del
ENST00000674301.1:c.1976-267_1976-264del	ENSP00000501333.1:n.1976-267_1976-264del
ENST00000316623.9:c.6872-267_6872-264del	ENSP00000325527.5:n.6872-267_6872-264del
ENST00000559133.5:c.2179-267_2179-264del
ENST00000560720.1:n.159-267_159-264del
NM_000138.4:c.6872-267_6872-264del , LRG_778t1:c.6872-267_6872-264del	NP_000129.3:n.6872-267_6872-264del
NM_000138.5:c.6872-267_6872-264del MANE Select	NP_000129.3:n.6872-267_6872-264del