Canonical Allele Identifier: CA2628331477

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428196-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428199_48428200del , CM000677.2:g.48428199_48428200del	GRCh38
NC_000015.9:g.48720396_48720397del , CM000677.1:g.48720396_48720397del	GRCh37
NC_000015.8:g.46507688_46507689del	NCBI36
NG_008805.2:g.222591_222592del , LRG_778:g.222591_222592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+148_6997+149del	ENSP00000453958.2:n.6997+148_6997+149del
ENST00000674301.2:c.*448+148_*448+149del	ENSP00000501333.2:n.*448+148_*448+149del
ENST00000682170.1:n.754_755del
ENST00000682767.1:n.232+148_232+149del
ENST00000316623.10:c.6997+148_6997+149del MANE Select	ENSP00000325527.5:n.6997+148_6997+149del
ENST00000674301.1:c.2101+148_2101+149del	ENSP00000501333.1:n.2101+148_2101+149del
ENST00000316623.9:c.6997+148_6997+149del	ENSP00000325527.5:n.6997+148_6997+149del
ENST00000559133.5:c.2304+148_2304+149del
ENST00000560720.1:n.432_433del
NM_000138.4:c.6997+148_6997+149del , LRG_778t1:c.6997+148_6997+149del	NP_000129.3:n.6997+148_6997+149del
NM_000138.5:c.6997+148_6997+149del MANE Select	NP_000129.3:n.6997+148_6997+149del