Canonical Allele Identifier: CA2695220316

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487431_48487442del , CM000677.2:g.48487431_48487442del	GRCh38
NC_000015.9:g.48779628_48779639del , CM000677.1:g.48779628_48779639del	GRCh37
NC_000015.8:g.46566920_46566931del	NCBI36
NG_008805.2:g.163349_163360del , LRG_778:g.163349_163360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-3_3346del
ENST00000674301.2:c.3338-3_3346del
ENST00000684448.1:n.2012-3_2020del
ENST00000316623.10:c.3338-3_3346del
ENST00000316623.9:c.3338-3_3346del
ENST00000537463.6:c.637-12790_637-12779del	ENSP00000440294.2:n.637-12790_637-12779del
NM_000138.4:c.3338-3_3346del , LRG_778t1:c.3338-3_3346del
NM_000138.5:c.3338-3_3346del