Canonical Allele Identifier: CA2628334830

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492695-A-AAAACTACTTGTAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492701_48492702insCTTGTAGGCAAACTA , CM000677.2:g.48492701_48492702insCTTGTAGGCAAACTA	GRCh38
NC_000015.9:g.48784898_48784899insCTTGTAGGCAAACTA , CM000677.1:g.48784898_48784899insCTTGTAGGCAAACTA	GRCh37
NC_000015.8:g.46572190_46572191insCTTGTAGGCAAACTA	NCBI36
NG_008805.2:g.158093_158094insGCCTACAAGTAGTTT , LRG_778:g.158093_158094insGCCTACAAGTAGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2729-110_2729-109insGCCTACAAGTAGTTT	ENSP00000453958.2:n.2729-110_2729-109insGCCTACAAGTAGTTT
ENST00000674301.2:c.2729-110_2729-109insGCCTACAAGTAGTTT	ENSP00000501333.2:n.2729-110_2729-109insGCCTACAAGTAGTTT
ENST00000684448.1:n.1403-110_1403-109insGCCTACAAGTAGTTT
ENST00000316623.10:c.2729-110_2729-109insGCCTACAAGTAGTTT MANE Select	ENSP00000325527.5:n.2729-110_2729-109insGCCTACAAGTAGTTT
ENST00000316623.9:c.2729-110_2729-109insGCCTACAAGTAGTTT	ENSP00000325527.5:n.2729-110_2729-109insGCCTACAAGTAGTTT
ENST00000537463.6:c.637-18046_637-18045insGCCTACAAGTAGTTT	ENSP00000440294.2:n.637-18046_637-18045insGCCTACAAGTAGTTT
NM_000138.4:c.2729-110_2729-109insGCCTACAAGTAGTTT , LRG_778t1:c.2729-110_2729-109insGCCTACAAGTAGTTT	NP_000129.3:n.2729-110_2729-109insGCCTACAAGTAGTTT
NM_000138.5:c.2729-110_2729-109insGCCTACAAGTAGTTT MANE Select	NP_000129.3:n.2729-110_2729-109insGCCTACAAGTAGTTT