Canonical Allele Identifier: CA617834164

Gene: FBN1

Linked Data

• dbSNP Id: rs1177851356
• gnomAD v2: 15-48722775-AAG-A
• gnomAD v3: 15-48430578-AAG-A
• gnomAD v4: 15-48430578-AAG-A
• MyVariant Identifiers: chr15:g.48722776_48722777del (hg19) ; chr15:g.48430579_48430580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430580_48430581del , CM000677.2:g.48430580_48430581del	GRCh38
NC_000015.9:g.48722777_48722778del , CM000677.1:g.48722777_48722778del	GRCh37
NC_000015.8:g.46510069_46510070del	NCBI36
NG_008805.2:g.220209_220210del , LRG_778:g.220209_220210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6871+91_6871+92del	ENSP00000453958.2:n.6871+91_6871+92del
ENST00000674301.2:c.*322+91_*322+92del	ENSP00000501333.2:n.*322+91_*322+92del
ENST00000682170.1:n.480+91_480+92del
ENST00000316623.10:c.6871+91_6871+92del MANE Select	ENSP00000325527.5:n.6871+91_6871+92del
ENST00000674301.1:c.1975+91_1975+92del	ENSP00000501333.1:n.1975+91_1975+92del
ENST00000316623.9:c.6871+91_6871+92del	ENSP00000325527.5:n.6871+91_6871+92del
ENST00000559133.5:c.2178+91_2178+92del
ENST00000560720.1:n.158+91_158+92del
NM_000138.4:c.6871+91_6871+92del , LRG_778t1:c.6871+91_6871+92del	NP_000129.3:n.6871+91_6871+92del
NM_000138.5:c.6871+91_6871+92del MANE Select	NP_000129.3:n.6871+91_6871+92del