Canonical Allele Identifier: CA2534513395

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434386_48434387insTTTTTT , CM000677.2:g.48434386_48434387insTTTTTT	GRCh38
NC_000015.9:g.48726583_48726584insTTTTTT , CM000677.1:g.48726583_48726584insTTTTTT	GRCh37
NC_000015.8:g.46513875_46513876insTTTTTT	NCBI36
NG_008805.2:g.216402_216403insAAAAAA , LRG_778:g.216402_216403insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+207_6616+208insAAAAAA	ENSP00000453958.2:n.6616+207_6616+208insAAAAAA
ENST00000674301.2:c.6617-175_6617-174insAAAAAA	ENSP00000501333.2:n.6617-175_6617-174insAAAAAA
ENST00000682170.1:n.225+207_225+208insAAAAAA
ENST00000316623.10:c.6616+207_6616+208insAAAAAA MANE Select	ENSP00000325527.5:n.6616+207_6616+208insAAAAAA
ENST00000674301.1:c.1616-175_1616-174insAAAAAA	ENSP00000501333.1:n.1616-175_1616-174insAAAAAA
ENST00000316623.9:c.6616+207_6616+208insAAAAAA	ENSP00000325527.5:n.6616+207_6616+208insAAAAAA
ENST00000537463.6:c.*2379+207_*2379+208insAAAAAA	ENSP00000440294.2:n.*2379+207_*2379+208insAAAAAA
ENST00000559133.5:c.1923+207_1923+208insAAAAAA
NM_000138.4:c.6616+207_6616+208insAAAAAA , LRG_778t1:c.6616+207_6616+208insAAAAAA	NP_000129.3:n.6616+207_6616+208insAAAAAA
NM_000138.5:c.6616+207_6616+208insAAAAAA MANE Select	NP_000129.3:n.6616+207_6616+208insAAAAAA