Canonical Allele Identifier: CA2628330656

Gene: FBN1

Linked Data

• gnomAD v4: 15-48488308-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488309_48488311del , CM000677.2:g.48488309_48488311del	GRCh38
NC_000015.9:g.48780506_48780508del , CM000677.1:g.48780506_48780508del	GRCh37
NC_000015.8:g.46567798_46567800del	NCBI36
NG_008805.2:g.162478_162480del , LRG_778:g.162478_162480del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3208+57_3208+59del	ENSP00000453958.2:n.3208+57_3208+59del
ENST00000674301.2:c.3208+57_3208+59del	ENSP00000501333.2:n.3208+57_3208+59del
ENST00000684448.1:n.1882+57_1882+59del
ENST00000316623.10:c.3208+57_3208+59del MANE Select	ENSP00000325527.5:n.3208+57_3208+59del
ENST00000316623.9:c.3208+57_3208+59del	ENSP00000325527.5:n.3208+57_3208+59del
ENST00000537463.6:c.637-13661_637-13659del	ENSP00000440294.2:n.637-13661_637-13659de...
NM_000138.4:c.3208+57_3208+59del , LRG_778t1:c.3208+57_3208+59del	NP_000129.3:n.3208+57_3208+59del
NM_000138.5:c.3208+57_3208+59del MANE Select	NP_000129.3:n.3208+57_3208+59del