Canonical Allele Identifier: CA2175511739

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444374_48444376delinsAGT , CM000677.2:g.48444374_48444376delinsAGT	GRCh38
NC_000015.9:g.48736571_48736573delinsAGT , CM000677.1:g.48736571_48736573delinsAGT	GRCh37
NC_000015.8:g.46523863_46523865delinsAGT	NCBI36
NG_008805.2:g.206413_206415delinsACT , LRG_778:g.206413_206415delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+165_6037+167delinsACT	ENSP00000453958.2:n.6037+165_6037+167delinsACT
ENST00000674301.2:c.6037+165_6037+167delinsACT	ENSP00000501333.2:n.6037+165_6037+167delinsACT
ENST00000684448.1:n.4876_4878delinsACT
ENST00000316623.10:c.6037+165_6037+167delinsACT MANE Select	ENSP00000325527.5:n.6037+165_6037+167delinsACT
ENST00000674301.1:c.1036+165_1036+167delinsACT	ENSP00000501333.1:n.1036+165_1036+167delinsACT
ENST00000316623.9:c.6037+165_6037+167delinsACT	ENSP00000325527.5:n.6037+165_6037+167delinsACT
ENST00000537463.6:c.*1800+165_*1800+167delinsACT	ENSP00000440294.2:n.*1800+165_*1800+167delinsACT
ENST00000559133.5:c.1344+165_1344+167delinsACT
ENST00000560820.1:n.157+165_157+167delinsACT
NM_000138.4:c.6037+165_6037+167delinsACT , LRG_778t1:c.6037+165_6037+167delinsACT	NP_000129.3:n.6037+165_6037+167delinsACT
NM_000138.5:c.6037+165_6037+167delinsACT MANE Select	NP_000129.3:n.6037+165_6037+167delinsACT