Canonical Allele Identifier: CA2175463210

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421534_48421547delinsATCGCAGCTGAAGT , CM000677.2:g.48421534_48421547delinsATCGCAGCTGAAGT	GRCh38
NC_000015.9:g.48713731_48713744delinsATCGCAGCTGAAGT , CM000677.1:g.48713731_48713744delinsATCGCAGCTGAAGT	GRCh37
NC_000015.8:g.46501023_46501036delinsATCGCAGCTGAAGT	NCBI36
NG_008805.2:g.229242_229255delinsACTTCAGCTGCGAT , LRG_778:g.229242_229255delinsACTTCAGCTGCGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+11_*507+24delinsACTTCAGCTGCGAT	ENSP00000453958.2:n.*507+11_*507+24delins...
ENST00000674301.2:c.*1212+11_*1212+24delinsACTTCAGCTGCGAT	ENSP00000501333.2:n.*1212+11_*1212+24deli...
ENST00000682170.1:n.1880+11_1880+24delinsACTTCAGCTGCGAT
ENST00000682767.1:n.996+11_996+24delinsACTTCAGCTGCGAT
ENST00000316623.10:c.7699+11_7699+24delinsACTTCAGCTGCGAT MANE Select	ENSP00000325527.5:n.7699+11_7699+24delins...
ENST00000674301.1:c.2865+11_2865+24delinsACTTCAGCTGCGAT	ENSP00000501333.1:n.2865+11_2865+24delins...
ENST00000316623.9:c.7699+11_7699+24delinsACTTCAGCTGCGAT	ENSP00000325527.5:n.7699+11_7699+24delins...
ENST00000559133.5:c.3068+11_3068+24delinsACTTCAGCTGCGAT
NM_000138.4:c.7699+11_7699+24delinsACTTCAGCTGCGAT , LRG_778t1:c.7699+11_7699+24delinsACTTCAGCTGCGAT	NP_000129.3:n.7699+11_7699+24delinsACTTCA...
NM_000138.5:c.7699+11_7699+24delinsACTTCAGCTGCGAT MANE Select	NP_000129.3:n.7699+11_7699+24delinsACTTCA...