Canonical Allele Identifier: CA2175526035

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494185_48494192delinsTATAAGTA , CM000677.2:g.48494185_48494192delinsTATAAGTA	GRCh38
NC_000015.9:g.48786382_48786389delinsTATAAGTA , CM000677.1:g.48786382_48786389delinsTATAAGTA	GRCh37
NC_000015.8:g.46573674_46573681delinsTATAAGTA	NCBI36
NG_008805.2:g.156597_156604delinsTACTTATA , LRG_778:g.156597_156604delinsTACTTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+12_2728+19delinsTACTTATA	ENSP00000453958.2:n.2728+12_2728+19delinsTACTTATA
ENST00000674301.2:c.2728+12_2728+19delinsTACTTATA	ENSP00000501333.2:n.2728+12_2728+19delinsTACTTATA
ENST00000684448.1:n.1402+12_1402+19delinsTACTTATA
ENST00000316623.10:c.2728+12_2728+19delinsTACTTATA MANE Select	ENSP00000325527.5:n.2728+12_2728+19delinsTACTTATA
ENST00000316623.9:c.2728+12_2728+19delinsTACTTATA	ENSP00000325527.5:n.2728+12_2728+19delinsTACTTATA
ENST00000537463.6:c.637-19542_637-19535delinsTACTTATA	ENSP00000440294.2:n.637-19542_637-19535delinsTACTTATA
NM_000138.4:c.2728+12_2728+19delinsTACTTATA , LRG_778t1:c.2728+12_2728+19delinsTACTTATA	NP_000129.3:n.2728+12_2728+19delinsTACTTATA
NM_000138.5:c.2728+12_2728+19delinsTACTTATA MANE Select	NP_000129.3:n.2728+12_2728+19delinsTACTTATA