Canonical Allele Identifier: CA10587812

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263883
• ClinVar RCV Id: RCV001525147 ; RCV001854976 ; RCV002487144
• dbSNP Id: rs886038964
• gnomAD v2: 15-48738912-CATT-C
• gnomAD v3: 15-48446715-CATT-C
• gnomAD v4: 15-48446715-CATT-C
• MyVariant Identifiers: chr15:g.48738913_48738915del (hg19) ; chr15:g.48446716_48446718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446716_48446718del , CM000677.2:g.48446716_48446718del	GRCh38
NC_000015.9:g.48738913_48738915del , CM000677.1:g.48738913_48738915del	GRCh37
NC_000015.8:g.46526205_46526207del	NCBI36
NG_008805.2:g.204071_204073del , LRG_778:g.204071_204073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5776_5778del	ENSP00000453958.2:p.Asn1926del
ENST00000674301.2:c.5776_5778del	ENSP00000501333.2:p.Asn1926del
ENST00000684448.1:n.4450_4452del
ENST00000316623.10:c.5776_5778del MANE Select	ENSP00000325527.5:p.Asn1926del
ENST00000674301.1:c.775_777del	ENSP00000501333.1:p.Asn259del
ENST00000316623.9:c.5776_5778del	ENSP00000325527.5:p.Asn1926del
ENST00000537463.6:c.*1539_*1541del	ENSP00000440294.2:n.*1539_*1541del
ENST00000559133.5:c.1083_1085del
NM_000138.4:c.5776_5778del , LRG_778t1:c.5776_5778del	NP_000129.3:p.Asn1926del
NM_000138.5:c.5776_5778del MANE Select	NP_000129.3:p.Asn1926del