Canonical Allele Identifier: CA2175498610

Gene: FBN1

Linked Data

• dbSNP Id: rs2043000140

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428536_48428538del , CM000677.2:g.48428536_48428538del	GRCh38
NC_000015.9:g.48720733_48720735del , CM000677.1:g.48720733_48720735del	GRCh37
NC_000015.8:g.46508025_46508027del	NCBI36
NG_008805.2:g.222251_222253del , LRG_778:g.222251_222253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-67_6872-65del	ENSP00000453958.2:n.6872-67_6872-65del
ENST00000674301.2:c.*323-67_*323-65del	ENSP00000501333.2:n.*323-67_*323-65del
ENST00000682170.1:n.481-67_481-65del
ENST00000682767.1:n.40_42del
ENST00000316623.10:c.6872-67_6872-65del MANE Select	ENSP00000325527.5:n.6872-67_6872-65del
ENST00000674301.1:c.1976-67_1976-65del	ENSP00000501333.1:n.1976-67_1976-65del
ENST00000316623.9:c.6872-67_6872-65del	ENSP00000325527.5:n.6872-67_6872-65del
ENST00000559133.5:c.2179-67_2179-65del
ENST00000560720.1:n.159-67_159-65del
NM_000138.4:c.6872-67_6872-65del , LRG_778t1:c.6872-67_6872-65del	NP_000129.3:n.6872-67_6872-65del
NM_000138.5:c.6872-67_6872-65del MANE Select	NP_000129.3:n.6872-67_6872-65del