Canonical Allele Identifier: CA2628330245

Gene: FBN1

Linked Data

• gnomAD v4: 15-48487496-GCACTCCTCCCCCACCCATTGCTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487497_48487522del , CM000677.2:g.48487497_48487522del	GRCh38
NC_000015.9:g.48779694_48779719del , CM000677.1:g.48779694_48779719del	GRCh37
NC_000015.8:g.46566986_46567011del	NCBI36
NG_008805.2:g.163267_163292del , LRG_778:g.163267_163292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-85_3338-60del	ENSP00000453958.2:n.3338-85_3338-60del
ENST00000674301.2:c.3338-85_3338-60del	ENSP00000501333.2:n.3338-85_3338-60del
ENST00000684448.1:n.2012-85_2012-60del
ENST00000316623.10:c.3338-85_3338-60del MANE Select	ENSP00000325527.5:n.3338-85_3338-60del
ENST00000316623.9:c.3338-85_3338-60del	ENSP00000325527.5:n.3338-85_3338-60del
ENST00000537463.6:c.637-12872_637-12847del	ENSP00000440294.2:n.637-12872_637-12847del
NM_000138.4:c.3338-85_3338-60del , LRG_778t1:c.3338-85_3338-60del	NP_000129.3:n.3338-85_3338-60del
NM_000138.5:c.3338-85_3338-60del MANE Select	NP_000129.3:n.3338-85_3338-60del