Canonical Allele Identifier: CA2175524479

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492626_48492627delinsTA , CM000677.2:g.48492626_48492627delinsTA	GRCh38
NC_000015.9:g.48784823_48784824delinsTA , CM000677.1:g.48784823_48784824delinsTA	GRCh37
NC_000015.8:g.46572115_46572116delinsTA	NCBI36
NG_008805.2:g.158162_158163delinsTA , LRG_778:g.158162_158163delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2729-41_2729-40delinsTA	ENSP00000453958.2:n.2729-41_2729-40delinsTA
ENST00000674301.2:c.2729-41_2729-40delinsTA	ENSP00000501333.2:n.2729-41_2729-40delinsTA
ENST00000684448.1:n.1403-41_1403-40delinsTA
ENST00000316623.10:c.2729-41_2729-40delinsTA MANE Select	ENSP00000325527.5:n.2729-41_2729-40delinsTA
ENST00000316623.9:c.2729-41_2729-40delinsTA	ENSP00000325527.5:n.2729-41_2729-40delinsTA
ENST00000537463.6:c.637-17977_637-17976delinsTA	ENSP00000440294.2:n.637-17977_637-17976delinsTA
NM_000138.4:c.2729-41_2729-40delinsTA , LRG_778t1:c.2729-41_2729-40delinsTA	NP_000129.3:n.2729-41_2729-40delinsTA
NM_000138.5:c.2729-41_2729-40delinsTA MANE Select	NP_000129.3:n.2729-41_2729-40delinsTA