Canonical Allele Identifier: CA658798335

Gene: FBN1

Linked Data

• ClinVar Variation Id: 503863
• ClinVar RCV Id: RCV000599147
• dbSNP Id: rs1555395636
• MyVariant Identifiers: chr15:g.48736714_48736736del (hg19) ; chr15:g.48444517_48444539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444517_48444539del , CM000677.2:g.48444517_48444539del	GRCh38
NC_000015.9:g.48736714_48736736del , CM000677.1:g.48736714_48736736del	GRCh37
NC_000015.8:g.46524006_46524028del	NCBI36
NG_008805.2:g.206250_206272del , LRG_778:g.206250_206272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+2_6037+24del	ENSP00000453958.2:n.6037+2_6037+24del
ENST00000674301.2:c.6037+2_6037+24del	ENSP00000501333.2:n.6037+2_6037+24del
ENST00000684448.1:n.4713_4735del
ENST00000316623.10:c.6037+2_6037+24del MANE Select	ENSP00000325527.5:n.6037+2_6037+24del
ENST00000674301.1:c.1036+2_1036+24del	ENSP00000501333.1:n.1036+2_1036+24del
ENST00000316623.9:c.6037+2_6037+24del	ENSP00000325527.5:n.6037+2_6037+24del
ENST00000537463.6:c.*1800+2_*1800+24del	ENSP00000440294.2:n.*1800+2_*1800+24del
ENST00000559133.5:c.1344+2_1344+24del
ENST00000560820.1:n.157+2_157+24del
NM_000138.4:c.6037+2_6037+24del , LRG_778t1:c.6037+2_6037+24del	NP_000129.3:n.6037+2_6037+24del
NM_000138.5:c.6037+2_6037+24del MANE Select	NP_000129.3:n.6037+2_6037+24del