Canonical Allele Identifier: CA2695220184

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441715_48441720del , CM000677.2:g.48441715_48441720del	GRCh38
NC_000015.9:g.48733912_48733917del , CM000677.1:g.48733912_48733917del	GRCh37
NC_000015.8:g.46521204_46521209del	NCBI36
NG_008805.2:g.209071_209076del , LRG_778:g.209071_209076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6163+3_6163+8del	ENSP00000453958.2:n.6163+3_6163+8del
ENST00000674301.2:c.6163+3_6163+8del	ENSP00000501333.2:n.6163+3_6163+8del
ENST00000316623.10:c.6163+3_6163+8del MANE Select	ENSP00000325527.5:n.6163+3_6163+8del
ENST00000674301.1:c.1162+3_1162+8del	ENSP00000501333.1:n.1162+3_1162+8del
ENST00000316623.9:c.6163+3_6163+8del	ENSP00000325527.5:n.6163+3_6163+8del
ENST00000537463.6:c.*1926+3_*1926+8del	ENSP00000440294.2:n.*1926+3_*1926+8del
ENST00000559133.5:c.1470+3_1470+8del
ENST00000560820.1:n.283+3_283+8del
NM_000138.4:c.6163+3_6163+8del , LRG_778t1:c.6163+3_6163+8del	NP_000129.3:n.6163+3_6163+8del
NM_000138.5:c.6163+3_6163+8del MANE Select	NP_000129.3:n.6163+3_6163+8del