Canonical Allele Identifier: CA2999005598

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446623_48446625del , CM000677.2:g.48446623_48446625del	GRCh38
NC_000015.9:g.48738820_48738822del , CM000677.1:g.48738820_48738822del	GRCh37
NC_000015.8:g.46526112_46526114del	NCBI36
NG_008805.2:g.204165_204167del , LRG_778:g.204165_204167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5788+82_5788+84del	ENSP00000453958.2:n.5788+82_5788+84del
ENST00000674301.2:c.5788+82_5788+84del	ENSP00000501333.2:n.5788+82_5788+84del
ENST00000684448.1:n.4462+82_4462+84del
ENST00000316623.10:c.5788+82_5788+84del MANE Select	ENSP00000325527.5:n.5788+82_5788+84del
ENST00000674301.1:c.787+82_787+84del	ENSP00000501333.1:n.787+82_787+84del
ENST00000316623.9:c.5788+82_5788+84del	ENSP00000325527.5:n.5788+82_5788+84del
ENST00000537463.6:c.*1551+82_*1551+84del	ENSP00000440294.2:n.*1551+82_*1551+84del
ENST00000559133.5:c.1095+82_1095+84del
NM_000138.4:c.5788+82_5788+84del , LRG_778t1:c.5788+82_5788+84del	NP_000129.3:n.5788+82_5788+84del
NM_000138.5:c.5788+82_5788+84del MANE Select	NP_000129.3:n.5788+82_5788+84del