Canonical Allele Identifier: CA658683890

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495631
• ClinVar RCV Id: RCV000590437
• dbSNP Id: rs1555395744
• MyVariant Identifiers: chr15:g.48737578_48737592del (hg19) ; chr15:g.48445381_48445395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445381_48445395del , CM000677.2:g.48445381_48445395del	GRCh38
NC_000015.9:g.48737578_48737592del , CM000677.1:g.48737578_48737592del	GRCh37
NC_000015.8:g.46524870_46524884del	NCBI36
NG_008805.2:g.205394_205408del , LRG_778:g.205394_205408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5898_5912del	ENSP00000453958.2:p.Asp1967_Cys1971del
ENST00000674301.2:c.5898_5912del	ENSP00000501333.2:p.Asp1967_Cys1971del
ENST00000684448.1:n.4572_4586del
ENST00000316623.10:c.5898_5912del MANE Select	ENSP00000325527.5:p.Asp1967_Cys1971del
ENST00000674301.1:c.897_911del	ENSP00000501333.1:p.Asp300_Cys304del
ENST00000316623.9:c.5898_5912del	ENSP00000325527.5:p.Asp1967_Cys1971del
ENST00000537463.6:c.*1661_*1675del	ENSP00000440294.2:n.*1661_*1675del
ENST00000559133.5:c.1205_1219del
ENST00000560820.1:n.18_32del
NM_000138.4:c.5898_5912del , LRG_778t1:c.5898_5912del	NP_000129.3:p.Asp1967_Cys1971del
NM_000138.5:c.5898_5912del MANE Select	NP_000129.3:p.Asp1967_Cys1971del