Canonical Allele Identifier: CA2741427197

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513537_48513538insA , CM000677.2:g.48513537_48513538insA	GRCh38
NC_000015.9:g.48805734_48805735insA , CM000677.1:g.48805734_48805735insA	GRCh37
NC_000015.8:g.46593026_46593027insA	NCBI36
NG_008805.2:g.137251_137252insT , LRG_778:g.137251_137252insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1588+11_1588+12insT	ENSP00000453958.2:n.1588+11_1588+12insT
ENST00000674301.2:c.1588+11_1588+12insT	ENSP00000501333.2:n.1588+11_1588+12insT
ENST00000684448.1:n.262+11_262+12insT
ENST00000316623.10:c.1588+11_1588+12insT MANE Select	ENSP00000325527.5:n.1588+11_1588+12insT
ENST00000316623.9:c.1588+11_1588+12insT	ENSP00000325527.5:n.1588+11_1588+12insT
ENST00000537463.6:c.636+24173_636+24174insT	ENSP00000440294.2:n.636+24173_636+24174in...
NM_000138.4:c.1588+11_1588+12insT , LRG_778t1:c.1588+11_1588+12insT	NP_000129.3:n.1588+11_1588+12insT
NM_000138.5:c.1588+11_1588+12insT MANE Select	NP_000129.3:n.1588+11_1588+12insT