Canonical Allele Identifier: CA713392052

Gene: FBN1

Linked Data

• dbSNP Id: rs1359696900
• gnomAD v4: 15-48494149-CACAA-C
• MyVariant Identifiers: chr15:g.48786347_48786350del (hg19) ; chr15:g.48494150_48494153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494153_48494156del , CM000677.2:g.48494153_48494156del	GRCh38
NC_000015.9:g.48786350_48786353del , CM000677.1:g.48786350_48786353del	GRCh37
NC_000015.8:g.46573642_46573645del	NCBI36
NG_008805.2:g.156636_156639del , LRG_778:g.156636_156639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+51_2728+54del	ENSP00000453958.2:n.2728+51_2728+54del
ENST00000674301.2:c.2728+51_2728+54del	ENSP00000501333.2:n.2728+51_2728+54del
ENST00000684448.1:n.1402+51_1402+54del
ENST00000316623.10:c.2728+51_2728+54del MANE Select	ENSP00000325527.5:n.2728+51_2728+54del
ENST00000316623.9:c.2728+51_2728+54del	ENSP00000325527.5:n.2728+51_2728+54del
ENST00000537463.6:c.637-19503_637-19500del	ENSP00000440294.2:n.637-19503_637-19500del
NM_000138.4:c.2728+51_2728+54del , LRG_778t1:c.2728+51_2728+54del	NP_000129.3:n.2728+51_2728+54del
NM_000138.5:c.2728+51_2728+54del MANE Select	NP_000129.3:n.2728+51_2728+54del