Canonical Allele Identifier: CA2175512717

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444983_48444984delinsGA , CM000677.2:g.48444983_48444984delinsGA	GRCh38
NC_000015.9:g.48737180_48737181delinsGA , CM000677.1:g.48737180_48737181delinsGA	GRCh37
NC_000015.8:g.46524472_46524473delinsGA	NCBI36
NG_008805.2:g.205805_205806delinsTC , LRG_778:g.205805_205806delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5918-324_5918-323delinsTC	ENSP00000453958.2:n.5918-324_5918-323delinsTC
ENST00000674301.2:c.5918-324_5918-323delinsTC	ENSP00000501333.2:n.5918-324_5918-323delinsTC
ENST00000684448.1:n.4592-324_4592-323delinsTC
ENST00000316623.10:c.5918-324_5918-323delinsTC MANE Select	ENSP00000325527.5:n.5918-324_5918-323delinsTC
ENST00000674301.1:c.917-324_917-323delinsTC	ENSP00000501333.1:n.917-324_917-323delinsTC
ENST00000316623.9:c.5918-324_5918-323delinsTC	ENSP00000325527.5:n.5918-324_5918-323delinsTC
ENST00000537463.6:c.*1681-324_*1681-323delinsTC	ENSP00000440294.2:n.*1681-324_*1681-323delinsTC
ENST00000559133.5:c.1225-324_1225-323delinsTC
ENST00000560820.1:n.38-324_38-323delinsTC
NM_000138.4:c.5918-324_5918-323delinsTC , LRG_778t1:c.5918-324_5918-323delinsTC	NP_000129.3:n.5918-324_5918-323delinsTC
NM_000138.5:c.5918-324_5918-323delinsTC MANE Select	NP_000129.3:n.5918-324_5918-323delinsTC