Canonical Allele Identifier: CA2175526619

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503873_48503877delinsCCAAA , CM000677.2:g.48503873_48503877delinsCCAAA	GRCh38
NC_000015.9:g.48796070_48796074delinsCCAAA , CM000677.1:g.48796070_48796074delinsCCAAA	GRCh37
NC_000015.8:g.46583362_46583366delinsCCAAA	NCBI36
NG_008805.2:g.146912_146916delinsTTTGG , LRG_778:g.146912_146916delinsTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2023_2027delinsTTTGG	ENSP00000453958.2:p.Phe675=
ENST00000674301.2:c.2023_2027delinsTTTGG	ENSP00000501333.2:p.Phe675=
ENST00000684448.1:n.697_701delinsTTTGG
ENST00000316623.10:c.2023_2027delinsTTTGG MANE Select	ENSP00000325527.5:p.Phe675=
ENST00000316623.9:c.2023_2027delinsTTTGG	ENSP00000325527.5:p.Phe675=
ENST00000537463.6:c.637-29227_637-29223delinsTTTGG	ENSP00000440294.2:n.637-29227_637-29223delinsTTTGG
NM_000138.4:c.2023_2027delinsTTTGG , LRG_778t1:c.2023_2027delinsTTTGG	NP_000129.3:p.Phe675=
NM_000138.5:c.2023_2027delinsTTTGG MANE Select	NP_000129.3:p.Phe675=