Canonical Allele Identifier: CA918798748
Community Standard Title: NM_006659.4(TUBGCP2):c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
Gene: TUBGCP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133289819_133289820insAAGGACCCCAGGTCCCTGCCCGCTGCGCC , CM000672.2:g.133289819_133289820insAAGGACCCCAGGTCCCTGCCCGCTGCGCC GRCh38
NC_000010.10:g.135103323_135103324insAAGGACCCCAGGTCCCTGCCCGCTGCGCC , CM000672.1:g.135103323_135103324insAAGGACCCCAGGTCCCTGCCCGCTGCGCC GRCh37
NC_000010.9:g.134953313_134953314insAAGGACCCCAGGTCCCTGCCCGCTGCGCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006659.4:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC MANE Select NP_006650.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC...
ENST00000252936.8:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC MANE Select ENSP00000252936.3:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
NM_001256617.1:c.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC NP_001243546.1:n.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCAGCG...
NM_001256617.2:c.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC NP_001243546.1:n.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCAGCG...
NM_001256618.1:c.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC NP_001243547.1:n.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGCGGG...
NM_001256618.2:c.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC NP_001243547.1:n.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGCGGG...
NM_006659.3:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC NP_006650.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC...
NR_046330.1:n.2117+16_2117+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
NR_046330.2:n.2117+16_2117+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000252936.7:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000252936.3:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000368562.5:c.139+16_139+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000357550.1:n.139+16_139+17insAGGGACCTGGGGTCCTTGGCGCAGC...
ENST00000368563.6:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000357551.2:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000417178.6:c.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000395666.2:n.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGC...
ENST00000417178.7:c.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000395666.2:n.970+16_970+17insAGGGACCTGGGGTCCTTGGCGCAGC...
ENST00000482278.5:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000436438.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000543663.5:c.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000446093.1:n.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000543663.6:c.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000446093.1:n.1444+16_1444+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000682093.1:c.*896+16_*896+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000508354.1:n.*896+16_*896+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000682123.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507610.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000682161.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507509.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000682256.1:n.2587+16_2587+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000682332.1:n.1554+16_1554+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000682515.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000506731.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000682631.1:c.*1388+16_*1388+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507220.1:n.*1388+16_*1388+17insAGGGACCTGGGGTCCTTGGCG...
ENST00000682712.1:n.1376+16_1376+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000682905.1:c.1393+16_1393+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507305.1:n.1393+16_1393+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000682990.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000506868.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000683014.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507631.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000683060.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000508258.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000683308.1:n.473+16_473+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000683383.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507601.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000683552.1:n.1554+16_1554+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000683612.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507482.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000683673.1:n.1877+16_1877+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000683704.1:n.1554+16_1554+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC
ENST00000683786.1:c.*1167+16_*1167+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000508200.1:n.*1167+16_*1167+17insAGGGACCTGGGGTCCTTGGCG...
ENST00000683829.1:c.*1339+16_*1339+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000508146.1:n.*1339+16_*1339+17insAGGGACCTGGGGTCCTTGGCG...
ENST00000684478.1:c.*842+16_*842+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507361.1:n.*842+16_*842+17insAGGGACCTGGGGTCCTTGGCGCA...
ENST00000684487.1:c.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCAGCGGGC ENSP00000507802.1:n.1360+16_1360+17insAGGGACCTGGGGTCCTTGGCGCA...