Canonical Allele Identifier: CA618009225

Gene: FBN1

Linked Data

• dbSNP Id: rs1487171200
• gnomAD v2: 15-48713998-T-TTA
• gnomAD v3: 15-48421801-T-TTA
• gnomAD v4: 15-48421801-T-TTA
• MyVariant Identifiers: chr15:g.48713998_48713999insTA (hg19) ; chr15:g.48421801_48421802insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421802_48421803insAT , CM000677.2:g.48421802_48421803insAT	GRCh38
NC_000015.9:g.48713999_48714000insAT , CM000677.1:g.48713999_48714000insAT	GRCh37
NC_000015.8:g.46501291_46501292insAT	NCBI36
NG_008805.2:g.228987_228988insTA , LRG_778:g.228987_228988insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-116_*379-115insTA	ENSP00000453958.2:n.*379-116_*379-115insTA
ENST00000674301.2:c.*1084-116_*1084-115insTA	ENSP00000501333.2:n.*1084-116_*1084-115insTA
ENST00000682170.1:n.1752-116_1752-115insTA
ENST00000682767.1:n.868-116_868-115insTA
ENST00000316623.10:c.7571-116_7571-115insTA MANE Select	ENSP00000325527.5:n.7571-116_7571-115insTA
ENST00000674301.1:c.2737-116_2737-115insTA	ENSP00000501333.1:n.2737-116_2737-115insTA
ENST00000316623.9:c.7571-116_7571-115insTA	ENSP00000325527.5:n.7571-116_7571-115insTA
ENST00000559133.5:c.2940-116_2940-115insTA
NM_000138.4:c.7571-116_7571-115insTA , LRG_778t1:c.7571-116_7571-115insTA	NP_000129.3:n.7571-116_7571-115insTA
NM_000138.5:c.7571-116_7571-115insTA MANE Select	NP_000129.3:n.7571-116_7571-115insTA