Canonical Allele Identifier: CA269537162

Gene: FBN1

Linked Data

• dbSNP Id: rs551801956
• gnomAD v2: 15-48786228-GTA-G
• gnomAD v3: 15-48494031-GTA-G
• gnomAD v4: 15-48494031-GTA-G
• MyVariant Identifiers: chr15:g.48786229_48786230del (hg19) ; chr15:g.48494032_48494033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494039_48494040del , CM000677.2:g.48494039_48494040del	GRCh38
NC_000015.9:g.48786236_48786237del , CM000677.1:g.48786236_48786237del	GRCh37
NC_000015.8:g.46573528_46573529del	NCBI36
NG_008805.2:g.156756_156757del , LRG_778:g.156756_156757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+171_2728+172del	ENSP00000453958.2:n.2728+171_2728+172del
ENST00000674301.2:c.2728+171_2728+172del	ENSP00000501333.2:n.2728+171_2728+172del
ENST00000684448.1:n.1402+171_1402+172del
ENST00000316623.10:c.2728+171_2728+172del MANE Select	ENSP00000325527.5:n.2728+171_2728+172del
ENST00000316623.9:c.2728+171_2728+172del	ENSP00000325527.5:n.2728+171_2728+172del
ENST00000537463.6:c.637-19383_637-19382del	ENSP00000440294.2:n.637-19383_637-19382del
NM_000138.4:c.2728+171_2728+172del , LRG_778t1:c.2728+171_2728+172del	NP_000129.3:n.2728+171_2728+172del
NM_000138.5:c.2728+171_2728+172del MANE Select	NP_000129.3:n.2728+171_2728+172del