Canonical Allele Identifier: CA2628334945

Gene: FBN1

Linked Data

• gnomAD v4: 15-48494187-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494189del , CM000677.2:g.48494189del	GRCh38
NC_000015.9:g.48786386del , CM000677.1:g.48786386del	GRCh37
NC_000015.8:g.46573678del	NCBI36
NG_008805.2:g.156601del , LRG_778:g.156601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+16del	ENSP00000453958.2:n.2728+16del
ENST00000674301.2:c.2728+16del	ENSP00000501333.2:n.2728+16del
ENST00000684448.1:n.1402+16del
ENST00000316623.10:c.2728+16del MANE Select	ENSP00000325527.5:n.2728+16del
ENST00000316623.9:c.2728+16del	ENSP00000325527.5:n.2728+16del
ENST00000537463.6:c.637-19538del	ENSP00000440294.2:n.637-19538del
NM_000138.4:c.2728+16del , LRG_778t1:c.2728+16del	NP_000129.3:n.2728+16del
NM_000138.5:c.2728+16del MANE Select	NP_000129.3:n.2728+16del