Canonical Allele Identifier: CA2175516124

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488307_48488313delinsTTAAAGA , CM000677.2:g.48488307_48488313delinsTTAAAGA	GRCh38
NC_000015.9:g.48780504_48780510delinsTTAAAGA , CM000677.1:g.48780504_48780510delinsTTAAAGA	GRCh37
NC_000015.8:g.46567796_46567802delinsTTAAAGA	NCBI36
NG_008805.2:g.162476_162482delinsTCTTTAA , LRG_778:g.162476_162482delinsTCTTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3208+55_3208+61delinsTCTTTAA	ENSP00000453958.2:n.3208+55_3208+61delins...
ENST00000674301.2:c.3208+55_3208+61delinsTCTTTAA	ENSP00000501333.2:n.3208+55_3208+61delins...
ENST00000684448.1:n.1882+55_1882+61delinsTCTTTAA
ENST00000316623.10:c.3208+55_3208+61delinsTCTTTAA MANE Select	ENSP00000325527.5:n.3208+55_3208+61delins...
ENST00000316623.9:c.3208+55_3208+61delinsTCTTTAA	ENSP00000325527.5:n.3208+55_3208+61delins...
ENST00000537463.6:c.637-13663_637-13657delinsTCTTTAA	ENSP00000440294.2:n.637-13663_637-13657de...
NM_000138.4:c.3208+55_3208+61delinsTCTTTAA , LRG_778t1:c.3208+55_3208+61delinsTCTTTAA	NP_000129.3:n.3208+55_3208+61delinsTCTTTA...
NM_000138.5:c.3208+55_3208+61delinsTCTTTAA MANE Select	NP_000129.3:n.3208+55_3208+61delinsTCTTTA...