Canonical Allele Identifier: CA2175529433

Gene: FBN1

Linked Data

• dbSNP Id: rs2043737434

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509053_48509054del , CM000677.2:g.48509053_48509054del	GRCh38
NC_000015.9:g.48801250_48801251del , CM000677.1:g.48801250_48801251del	GRCh37
NC_000015.8:g.46588542_46588543del	NCBI36
NG_008805.2:g.141737_141738del , LRG_778:g.141737_141738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-348_1715-347del	ENSP00000453958.2:n.1715-348_1715-347del
ENST00000674301.2:c.1715-348_1715-347del	ENSP00000501333.2:n.1715-348_1715-347del
ENST00000684448.1:n.389-348_389-347del
ENST00000316623.10:c.1715-348_1715-347del MANE Select	ENSP00000325527.5:n.1715-348_1715-347del
ENST00000316623.9:c.1715-348_1715-347del	ENSP00000325527.5:n.1715-348_1715-347del
ENST00000537463.6:c.636+28659_636+28660del	ENSP00000440294.2:n.636+28659_636+28660del
NM_000138.4:c.1715-348_1715-347del , LRG_778t1:c.1715-348_1715-347del	NP_000129.3:n.1715-348_1715-347del
NM_000138.5:c.1715-348_1715-347del MANE Select	NP_000129.3:n.1715-348_1715-347del