Canonical Allele Identifier: CA2628333413

Gene: FBN1

Linked Data

• gnomAD v4: 15-48468557-GGAGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468558_48468562del , CM000677.2:g.48468558_48468562del	GRCh38
NC_000015.9:g.48760755_48760759del , CM000677.1:g.48760755_48760759del	GRCh37
NC_000015.8:g.46548047_46548051del	NCBI36
NG_008805.2:g.182227_182231del , LRG_778:g.182227_182231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4460-28_4460-24del	ENSP00000453958.2:n.4460-28_4460-24del
ENST00000674301.2:c.4460-28_4460-24del	ENSP00000501333.2:n.4460-28_4460-24del
ENST00000684448.1:n.3134-28_3134-24del
ENST00000316623.10:c.4460-28_4460-24del MANE Select	ENSP00000325527.5:n.4460-28_4460-24del
ENST00000316623.9:c.4460-28_4460-24del	ENSP00000325527.5:n.4460-28_4460-24del
ENST00000537463.6:c.*223-28_*223-24del	ENSP00000440294.2:n.*223-28_*223-24del
NM_000138.4:c.4460-28_4460-24del , LRG_778t1:c.4460-28_4460-24del	NP_000129.3:n.4460-28_4460-24del
NM_000138.5:c.4460-28_4460-24del MANE Select	NP_000129.3:n.4460-28_4460-24del