Canonical Allele Identifier: CA2175573629

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48611000_48611001delinsTA , CM000677.2:g.48611000_48611001delinsTA	GRCh38
NC_000015.9:g.48903197_48903198delinsTA , CM000677.1:g.48903197_48903198delinsTA	GRCh37
NC_000015.8:g.46690489_46690490delinsTA	NCBI36
NG_008805.2:g.39788_39789delinsTA , LRG_778:g.39788_39789delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-175_248-174delinsTA	ENSP00000453958.2:n.248-175_248-174delinsTA
ENST00000674301.2:c.248-175_248-174delinsTA	ENSP00000501333.2:n.248-175_248-174delinsTA
ENST00000316623.10:c.248-175_248-174delinsTA MANE Select	ENSP00000325527.5:n.248-175_248-174delinsTA
ENST00000316623.9:c.248-175_248-174delinsTA	ENSP00000325527.5:n.248-175_248-174delinsTA
ENST00000537463.6:c.248-175_248-174delinsTA	ENSP00000440294.2:n.248-175_248-174delinsTA
NM_000138.4:c.248-175_248-174delinsTA , LRG_778t1:c.248-175_248-174delinsTA	NP_000129.3:n.248-175_248-174delinsTA
NM_000138.5:c.248-175_248-174delinsTA MANE Select	NP_000129.3:n.248-175_248-174delinsTA