Canonical Allele Identifier: CA713417065

Gene: FBN1

Linked Data

• dbSNP Id: rs1432602320
• gnomAD v4: 15-48508845-GATC-G
• MyVariant Identifiers: chr15:g.48801043_48801045del (hg19) ; chr15:g.48508846_48508848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508849_48508851del , CM000677.2:g.48508849_48508851del	GRCh38
NC_000015.9:g.48801046_48801048del , CM000677.1:g.48801046_48801048del	GRCh37
NC_000015.8:g.46588338_46588340del	NCBI36
NG_008805.2:g.141941_141943del , LRG_778:g.141941_141943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-144_1715-142del	ENSP00000453958.2:n.1715-144_1715-142del
ENST00000674301.2:c.1715-144_1715-142del	ENSP00000501333.2:n.1715-144_1715-142del
ENST00000684448.1:n.389-144_389-142del
ENST00000316623.10:c.1715-144_1715-142del MANE Select	ENSP00000325527.5:n.1715-144_1715-142del
ENST00000316623.9:c.1715-144_1715-142del	ENSP00000325527.5:n.1715-144_1715-142del
ENST00000537463.6:c.636+28863_636+28865del	ENSP00000440294.2:n.636+28863_636+28865del
NM_000138.4:c.1715-144_1715-142del , LRG_778t1:c.1715-144_1715-142del	NP_000129.3:n.1715-144_1715-142del
NM_000138.5:c.1715-144_1715-142del MANE Select	NP_000129.3:n.1715-144_1715-142del