Canonical Allele Identifier: CA2175525964

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494078_48494081delinsCATT , CM000677.2:g.48494078_48494081delinsCATT	GRCh38
NC_000015.9:g.48786275_48786278delinsCATT , CM000677.1:g.48786275_48786278delinsCATT	GRCh37
NC_000015.8:g.46573567_46573570delinsCATT	NCBI36
NG_008805.2:g.156708_156711delinsAATG , LRG_778:g.156708_156711delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+123_2728+126delinsAATG	ENSP00000453958.2:n.2728+123_2728+126delinsAATG
ENST00000674301.2:c.2728+123_2728+126delinsAATG	ENSP00000501333.2:n.2728+123_2728+126delinsAATG
ENST00000684448.1:n.1402+123_1402+126delinsAATG
ENST00000316623.10:c.2728+123_2728+126delinsAATG MANE Select	ENSP00000325527.5:n.2728+123_2728+126delinsAATG
ENST00000316623.9:c.2728+123_2728+126delinsAATG	ENSP00000325527.5:n.2728+123_2728+126delinsAATG
ENST00000537463.6:c.637-19431_637-19428delinsAATG	ENSP00000440294.2:n.637-19431_637-19428delinsAATG
NM_000138.4:c.2728+123_2728+126delinsAATG , LRG_778t1:c.2728+123_2728+126delinsAATG	NP_000129.3:n.2728+123_2728+126delinsAATG
NM_000138.5:c.2728+123_2728+126delinsAATG MANE Select	NP_000129.3:n.2728+123_2728+126delinsAATG