Canonical Allele Identifier: CA713395814

Gene: FBN1

Linked Data

• dbSNP Id: rs1166859508
• gnomAD v4: 15-48434448-AAAG-A
• MyVariant Identifiers: chr15:g.48726646_48726648del (hg19) ; chr15:g.48434449_48434451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434454_48434456del , CM000677.2:g.48434454_48434456del	GRCh38
NC_000015.9:g.48726651_48726653del , CM000677.1:g.48726651_48726653del	GRCh37
NC_000015.8:g.46513943_46513945del	NCBI36
NG_008805.2:g.216338_216340del , LRG_778:g.216338_216340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+143_6616+145del	ENSP00000453958.2:n.6616+143_6616+145del
ENST00000674301.2:c.6616+143_6616+145del	ENSP00000501333.2:n.6616+143_6616+145del
ENST00000682170.1:n.225+143_225+145del
ENST00000316623.10:c.6616+143_6616+145del MANE Select	ENSP00000325527.5:n.6616+143_6616+145del
ENST00000674301.1:c.1615+143_1615+145del	ENSP00000501333.1:n.1615+143_1615+145del
ENST00000316623.9:c.6616+143_6616+145del	ENSP00000325527.5:n.6616+143_6616+145del
ENST00000537463.6:c.*2379+143_*2379+145del	ENSP00000440294.2:n.*2379+143_*2379+145del
ENST00000559133.5:c.1923+143_1923+145del
NM_000138.4:c.6616+143_6616+145del , LRG_778t1:c.6616+143_6616+145del	NP_000129.3:n.6616+143_6616+145del
NM_000138.5:c.6616+143_6616+145del MANE Select	NP_000129.3:n.6616+143_6616+145del