Canonical Allele Identifier: CA919548680

Gene: FBN1

Linked Data

• dbSNP Id: rs1555398497

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487035_48487038del , CM000677.2:g.48487035_48487038del	GRCh38
NC_000015.9:g.48779232_48779235del , CM000677.1:g.48779232_48779235del	GRCh37
NC_000015.8:g.46566524_46566527del	NCBI36
NG_008805.2:g.163751_163754del , LRG_778:g.163751_163754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+37_3589+40del	ENSP00000453958.2:n.3589+37_3589+40del
ENST00000674301.2:c.3589+37_3589+40del	ENSP00000501333.2:n.3589+37_3589+40del
ENST00000684448.1:n.2263+37_2263+40del
ENST00000316623.10:c.3589+37_3589+40del MANE Select	ENSP00000325527.5:n.3589+37_3589+40del
ENST00000316623.9:c.3589+37_3589+40del	ENSP00000325527.5:n.3589+37_3589+40del
ENST00000537463.6:c.637-12388_637-12385del	ENSP00000440294.2:n.637-12388_637-12385del
NM_000138.4:c.3589+37_3589+40del , LRG_778t1:c.3589+37_3589+40del	NP_000129.3:n.3589+37_3589+40del
NM_000138.5:c.3589+37_3589+40del MANE Select	NP_000129.3:n.3589+37_3589+40del