Canonical Allele Identifier: CA969550578

Gene: FBN1

Linked Data

• dbSNP Id: rs2043147691
• gnomAD v3: 15-48445200-A-ATATATATG
• gnomAD v4: 15-48445200-A-ATATATATG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445202_48445209dup , CM000677.2:g.48445202_48445209dup	GRCh38
NC_000015.9:g.48737399_48737406dup , CM000677.1:g.48737399_48737406dup	GRCh37
NC_000015.8:g.46524691_46524698dup	NCBI36
NG_008805.2:g.205581_205588dup , LRG_778:g.205581_205588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+168_5917+175dup	ENSP00000453958.2:n.5917+168_5917+175dup
ENST00000674301.2:c.5917+168_5917+175dup	ENSP00000501333.2:n.5917+168_5917+175dup
ENST00000684448.1:n.4591+168_4591+175dup
ENST00000316623.10:c.5917+168_5917+175dup MANE Select	ENSP00000325527.5:n.5917+168_5917+175dup
ENST00000674301.1:c.916+168_916+175dup	ENSP00000501333.1:n.916+168_916+175dup
ENST00000316623.9:c.5917+168_5917+175dup	ENSP00000325527.5:n.5917+168_5917+175dup
ENST00000537463.6:c.*1680+168_*1680+175dup	ENSP00000440294.2:n.*1680+168_*1680+175dup
ENST00000559133.5:c.1224+168_1224+175dup
ENST00000560820.1:n.37+168_37+175dup
NM_000138.4:c.5917+168_5917+175dup , LRG_778t1:c.5917+168_5917+175dup	NP_000129.3:n.5917+168_5917+175dup
NM_000138.5:c.5917+168_5917+175dup MANE Select	NP_000129.3:n.5917+168_5917+175dup