Canonical Allele Identifier: CA805712347

Gene: G3BP1

Linked Data

• dbSNP Id: rs1309778187
• gnomAD v3: 5-151804999-CT-C
• gnomAD v4: 5-151804999-CT-C
• MyVariant Identifiers: chr5:g.151184561del (hg19) ; chr5:g.151805000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151805002del , CM000667.2:g.151805002del	GRCh38
NC_000005.9:g.151184563del , CM000667.1:g.151184563del	GRCh37
NC_000005.8:g.151164756del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356245.8:c.*911del MANE Select	ENSP00000348578.3:n.*911del
ENST00000520177.6:c.*1098del	ENSP00000427810.2:n.*1098del
ENST00000676634.1:n.683del
ENST00000676644.1:c.*2289del	ENSP00000504249.1:n.*2289del
ENST00000676715.1:c.819del
ENST00000676734.1:c.562+556del	ENSP00000504327.1:n.562+556del
ENST00000676878.1:c.562+556del	ENSP00000504118.1:n.562+556del
ENST00000676899.1:c.707del
ENST00000676911.1:n.681del
ENST00000676978.1:c.*668del	ENSP00000503939.1:n.*668del
ENST00000677323.1:c.*911del	ENSP00000502880.1:n.*911del
ENST00000677381.1:c.*1852del	ENSP00000504403.1:n.*1852del
ENST00000677493.1:c.*1387del	ENSP00000504786.1:n.*1387del
ENST00000677687.1:c.133-489del	ENSP00000504281.1:n.133-489del
ENST00000677757.1:n.4162del
ENST00000677923.1:c.*1350del	ENSP00000504573.1:n.*1350del
ENST00000678295.1:c.916del	ENSP00000503775.1:n.916del
ENST00000678646.1:c.*911del	ENSP00000504525.1:n.*911del
ENST00000678657.1:c.840del	ENSP00000504393.1:n.840del
ENST00000678854.1:c.*363del	ENSP00000503080.1:n.*363del
ENST00000678904.1:n.2691del
ENST00000678910.1:c.*647del	ENSP00000503654.1:n.*647del
ENST00000678925.1:c.*647del	ENSP00000503699.1:n.*647del
ENST00000678964.1:c.*1378del	ENSP00000503385.1:n.*1378del
ENST00000679289.1:c.*1916del	ENSP00000504039.1:n.*1916del
ENST00000356245.7:c.*911del	ENSP00000348578.3:n.*911del
ENST00000394123.7:c.*911del	ENSP00000377681.3:n.*911del
ENST00000520177.5:c.*1852del	ENSP00000427810.1:n.*1852del
NM_005754.2:c.*911del	NP_005745.1:n.*911del
NM_198395.1:c.*911del	NP_938405.1:n.*911del
XM_006714749.2:c.*911del	XP_006714812.1:n.*911del
XM_006714750.2:c.*911del	XP_006714813.1:n.*911del
NM_005754.3:c.*911del MANE Select	NP_005745.1:n.*911del
NM_198395.2:c.*911del	NP_938405.1:n.*911del