Canonical Allele Identifier: CA2628333218

Gene: FBN1

Linked Data

• gnomAD v4: 15-48468314-ATCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468320_48468323del , CM000677.2:g.48468320_48468323del	GRCh38
NC_000015.9:g.48760517_48760520del , CM000677.1:g.48760517_48760520del	GRCh37
NC_000015.8:g.46547809_46547812del	NCBI36
NG_008805.2:g.182471_182474del , LRG_778:g.182471_182474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4582+94_4582+97del	ENSP00000453958.2:n.4582+94_4582+97del
ENST00000674301.2:c.4582+94_4582+97del	ENSP00000501333.2:n.4582+94_4582+97del
ENST00000684448.1:n.3256+94_3256+97del
ENST00000316623.10:c.4582+94_4582+97del MANE Select	ENSP00000325527.5:n.4582+94_4582+97del
ENST00000316623.9:c.4582+94_4582+97del	ENSP00000325527.5:n.4582+94_4582+97del
ENST00000537463.6:c.*345+94_*345+97del	ENSP00000440294.2:n.*345+94_*345+97del
NM_000138.4:c.4582+94_4582+97del , LRG_778t1:c.4582+94_4582+97del	NP_000129.3:n.4582+94_4582+97del
NM_000138.5:c.4582+94_4582+97del MANE Select	NP_000129.3:n.4582+94_4582+97del