Canonical Allele Identifier: CA2175525918
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494031_48494033delinsGTA , CM000677.2:g.48494031_48494033delinsGTA GRCh38
NC_000015.9:g.48786228_48786230delinsGTA , CM000677.1:g.48786228_48786230delinsGTA GRCh37
NC_000015.8:g.46573520_46573522delinsGTA NCBI36
NG_008805.2:g.156756_156758delinsTAC , LRG_778:g.156756_156758delinsTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2728+171_2728+173delinsTAC ENSP00000453958.2:n.2728+171_2728+173delinsTAC
ENST00000674301.2:c.2728+171_2728+173delinsTAC ENSP00000501333.2:n.2728+171_2728+173delinsTAC
ENST00000684448.1:n.1402+171_1402+173delinsTAC
ENST00000316623.10:c.2728+171_2728+173delinsTAC MANE Select ENSP00000325527.5:n.2728+171_2728+173delinsTAC
ENST00000316623.9:c.2728+171_2728+173delinsTAC ENSP00000325527.5:n.2728+171_2728+173delinsTAC
ENST00000537463.6:c.637-19383_637-19381delinsTAC ENSP00000440294.2:n.637-19383_637-19381delinsTAC
NM_000138.4:c.2728+171_2728+173delinsTAC , LRG_778t1:c.2728+171_2728+173delinsTAC NP_000129.3:n.2728+171_2728+173delinsTAC
NM_000138.5:c.2728+171_2728+173delinsTAC MANE Select NP_000129.3:n.2728+171_2728+173delinsTAC