Canonical Allele Identifier: CA969564498

Gene: FBN1

Linked Data

• dbSNP Id: rs2043736209
• gnomAD v3: 15-48508948-CTATT-C
• gnomAD v4: 15-48508948-CTATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508952_48508955del , CM000677.2:g.48508952_48508955del	GRCh38
NC_000015.9:g.48801149_48801152del , CM000677.1:g.48801149_48801152del	GRCh37
NC_000015.8:g.46588441_46588444del	NCBI36
NG_008805.2:g.141837_141840del , LRG_778:g.141837_141840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-248_1715-245del	ENSP00000453958.2:n.1715-248_1715-245del
ENST00000674301.2:c.1715-248_1715-245del	ENSP00000501333.2:n.1715-248_1715-245del
ENST00000684448.1:n.389-248_389-245del
ENST00000316623.10:c.1715-248_1715-245del MANE Select	ENSP00000325527.5:n.1715-248_1715-245del
ENST00000316623.9:c.1715-248_1715-245del	ENSP00000325527.5:n.1715-248_1715-245del
ENST00000537463.6:c.636+28759_636+28762del	ENSP00000440294.2:n.636+28759_636+28762del
NM_000138.4:c.1715-248_1715-245del , LRG_778t1:c.1715-248_1715-245del	NP_000129.3:n.1715-248_1715-245del
NM_000138.5:c.1715-248_1715-245del MANE Select	NP_000129.3:n.1715-248_1715-245del