Canonical Allele Identifier: CA2628330259

Gene: FBN1

Linked Data

• gnomAD v4: 15-48487517-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487517_48487518insAA , CM000677.2:g.48487517_48487518insAA	GRCh38
NC_000015.9:g.48779714_48779715insAA , CM000677.1:g.48779714_48779715insAA	GRCh37
NC_000015.8:g.46567006_46567007insAA	NCBI36
NG_008805.2:g.163271_163272insTT , LRG_778:g.163271_163272insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-81_3338-80insTT	ENSP00000453958.2:n.3338-81_3338-80insTT
ENST00000674301.2:c.3338-81_3338-80insTT	ENSP00000501333.2:n.3338-81_3338-80insTT
ENST00000684448.1:n.2012-81_2012-80insTT
ENST00000316623.10:c.3338-81_3338-80insTT MANE Select	ENSP00000325527.5:n.3338-81_3338-80insTT
ENST00000316623.9:c.3338-81_3338-80insTT	ENSP00000325527.5:n.3338-81_3338-80insTT
ENST00000537463.6:c.637-12868_637-12867insTT	ENSP00000440294.2:n.637-12868_637-12867insTT
NM_000138.4:c.3338-81_3338-80insTT , LRG_778t1:c.3338-81_3338-80insTT	NP_000129.3:n.3338-81_3338-80insTT
NM_000138.5:c.3338-81_3338-80insTT MANE Select	NP_000129.3:n.3338-81_3338-80insTT