Canonical Allele Identifier: CA2628329873

Gene: FBN1

Linked Data

• gnomAD v4: 15-48487035-TAAAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487039_48487044del , CM000677.2:g.48487039_48487044del	GRCh38
NC_000015.9:g.48779236_48779241del , CM000677.1:g.48779236_48779241del	GRCh37
NC_000015.8:g.46566528_46566533del	NCBI36
NG_008805.2:g.163748_163753del , LRG_778:g.163748_163753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+34_3589+39del	ENSP00000453958.2:n.3589+34_3589+39del
ENST00000674301.2:c.3589+34_3589+39del	ENSP00000501333.2:n.3589+34_3589+39del
ENST00000684448.1:n.2263+34_2263+39del
ENST00000316623.10:c.3589+34_3589+39del MANE Select	ENSP00000325527.5:n.3589+34_3589+39del
ENST00000316623.9:c.3589+34_3589+39del	ENSP00000325527.5:n.3589+34_3589+39del
ENST00000537463.6:c.637-12391_637-12386del	ENSP00000440294.2:n.637-12391_637-12386del
NM_000138.4:c.3589+34_3589+39del , LRG_778t1:c.3589+34_3589+39del	NP_000129.3:n.3589+34_3589+39del
NM_000138.5:c.3589+34_3589+39del MANE Select	NP_000129.3:n.3589+34_3589+39del