Canonical Allele Identifier: CA3114708

Gene: FGB

Linked Data

• dbSNP Id: rs761057382
• ExAC: 4:155490757 CAAAGT / C
• gnomAD v2: 4-155490757-CAAAGT-C
• MyVariant Identifiers: chr4:g.155490758_155490762del (hg19) ; chr4:g.154569606_154569610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569610_154569614del , CM000666.2:g.154569610_154569614del	GRCh38
NC_000004.11:g.155490762_155490766del , CM000666.1:g.155490762_155490766del	GRCh37
NC_000004.10:g.155710212_155710216del	NCBI36
NG_008833.1:g.11631_11635del , LRG_558:g.11631_11635del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302068.9:c.1055_1059del MANE Select	ENSP00000306099.4:p.Val352GlyfsTer11
ENST00000302068.8:c.1055_1059del	ENSP00000306099.4:p.Val352GlyfsTer11
ENST00000502545.5:n.939+303_939+307del
ENST00000509493.1:c.398_402del	ENSP00000426757.1:p.Val133GlyfsTer11
NM_001184741.1:c.878_882del	NP_001171670.1:p.Val293GlyfsTer11
NM_005141.4:c.1055_1059del , LRG_558t1:c.1055_1059del	NP_005132.2:p.Val352GlyfsTer11
NM_001382759.1:c.923_927del	NP_001369688.1:p.Val308GlyfsTer11
NM_001382760.1:c.1055_1059del	NP_001369689.1:p.Val352GlyfsTer11
NM_001382761.1:c.1055_1059del	NP_001369690.1:p.Val352GlyfsTer11
NM_001382762.1:c.755_759del	NP_001369691.1:p.Val252GlyfsTer11
NM_001382763.1:c.1046_1050del	NP_001369692.1:p.Val349GlyfsTer11
NM_001382764.1:c.1055_1059del	NP_001369693.1:p.Val352GlyfsTer18
NM_001382765.1:c.1055_1059del	NP_001369694.1:p.Val352GlyfsTer11
NM_005141.5:c.1055_1059del MANE Select	NP_005132.2:p.Val352GlyfsTer11