Canonical Allele Identifier: CA805712440

Gene: G3BP1

Linked Data

• dbSNP Id: rs1160294032
• gnomAD v3: 5-151805201-CAT-C
• gnomAD v4: 5-151805201-CAT-C
• MyVariant Identifiers: chr5:g.151184763_151184764del (hg19) ; chr5:g.151805202_151805203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151805202_151805203del , CM000667.2:g.151805202_151805203del	GRCh38
NC_000005.9:g.151184763_151184764del , CM000667.1:g.151184763_151184764del	GRCh37
NC_000005.8:g.151164956_151164957del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356245.8:c.*1111_*1112del MANE Select	ENSP00000348578.3:n.*1111_*1112del
ENST00000520177.6:c.*1298_*1299del	ENSP00000427810.2:n.*1298_*1299del
ENST00000676634.1:n.883_884del
ENST00000676644.1:c.*2489_*2490del	ENSP00000504249.1:n.*2489_*2490del
ENST00000676715.1:c.1019_1020del
ENST00000676734.1:c.562+756_562+757del	ENSP00000504327.1:n.562+756_562+757del
ENST00000676878.1:c.562+756_562+757del	ENSP00000504118.1:n.562+756_562+757del
ENST00000676899.1:c.907_908del
ENST00000676911.1:n.881_882del
ENST00000676978.1:c.*868_*869del	ENSP00000503939.1:n.*868_*869del
ENST00000677323.1:c.*1111_*1112del	ENSP00000502880.1:n.*1111_*1112del
ENST00000677381.1:c.*2052_*2053del	ENSP00000504403.1:n.*2052_*2053del
ENST00000677493.1:c.*1587_*1588del	ENSP00000504786.1:n.*1587_*1588del
ENST00000677687.1:c.133-289_133-288del	ENSP00000504281.1:n.133-289_133-288del
ENST00000677757.1:n.4362_4363del
ENST00000677923.1:c.*1550_*1551del	ENSP00000504573.1:n.*1550_*1551del
ENST00000678295.1:c.1116_1117del	ENSP00000503775.1:n.1116_1117del
ENST00000678646.1:c.*1111_*1112del	ENSP00000504525.1:n.*1111_*1112del
ENST00000678657.1:c.1040_1041del	ENSP00000504393.1:n.1040_1041del
ENST00000678854.1:c.*563_*564del	ENSP00000503080.1:n.*563_*564del
ENST00000678904.1:n.2891_2892del
ENST00000678910.1:c.*847_*848del	ENSP00000503654.1:n.*847_*848del
ENST00000678925.1:c.*847_*848del	ENSP00000503699.1:n.*847_*848del
ENST00000678964.1:c.*1578_*1579del	ENSP00000503385.1:n.*1578_*1579del
ENST00000679289.1:c.*2116_*2117del	ENSP00000504039.1:n.*2116_*2117del
ENST00000356245.7:c.*1111_*1112del	ENSP00000348578.3:n.*1111_*1112del
ENST00000394123.7:c.*1111_*1112del	ENSP00000377681.3:n.*1111_*1112del
ENST00000520177.5:c.*2052_*2053del	ENSP00000427810.1:n.*2052_*2053del
NM_005754.2:c.*1111_*1112del	NP_005745.1:n.*1111_*1112del
NM_198395.1:c.*1111_*1112del	NP_938405.1:n.*1111_*1112del
XM_006714749.2:c.*1111_*1112del	XP_006714812.1:n.*1111_*1112del
XM_006714750.2:c.*1111_*1112del	XP_006714813.1:n.*1111_*1112del
NM_005754.3:c.*1111_*1112del MANE Select	NP_005745.1:n.*1111_*1112del
NM_198395.2:c.*1111_*1112del	NP_938405.1:n.*1111_*1112del