Linked Data
ClinVar Variation Id:
1401166
ClinVar RCV Id:
RCV001896863
dbSNP Id:
rs1171155255
gnomAD v3:
19-11576729-T-TTA
gnomAD v4:
19-11576729-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11576729_11576730insTA , CM000681.2:g.11576729_11576730insTA | GRCh38 |
| NC_000019.9:g.11687544_11687545insTA , CM000681.1:g.11687544_11687545insTA | GRCh37 |
| NC_000019.8:g.11548544_11548545insTA | NCBI36 |
| NG_028127.1:g.7257_7258insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218758.10:c.375_376insTA (ACP5) | ENSP00000218758.4:p.Ile126Ter | |
| ENST00000412435.7:c.375_376insTA (ACP5) | ENSP00000392374.1:p.Ile126Ter | |
| ENST00000588524.6:n.881_882insTA (ACP5) | ||
| ENST00000588625.2:c.500_501insTA (ACP5) | ENSP00000512197.1:n.500_501insTA | |
| ENST00000589792.6:c.375_376insTA (ACP5) | ENSP00000468685.2:p.Ile126Ter | |
| ENST00000590832.2:c.375_376insTA (ACP5) | ENSP00000465127.2:p.Ile126Ter | |
| ENST00000591319.2:c.375_376insTA (ACP5) | ENSP00000464831.2:p.Ile126Ter | |
| ENST00000592659.2:c.375_376insTA (ACP5) | ENSP00000465498.2:p.Ile126Ter | |
| ENST00000592828.7:c.375_376insTA (ACP5) | ENSP00000468767.3:p.Ile126Ter | |
| ENST00000649386.2:c.375_376insTA (ACP5) | ENSP00000497140.2:p.Ile126Ter | |
| ENST00000695791.1:c.375_376insTA (ACP5) | ENSP00000512173.1:p.Ile126Ter | |
| ENST00000695809.1:c.372_373insTA (ACP5) | ENSP00000512189.1:p.Ile125Ter | |
| ENST00000695810.1:c.311+64_311+65insTA (ACP5) | ENSP00000512190.1:n.311+64_311+65insTA | |
| ENST00000695811.1:c.375_376insTA (ACP5) | ENSP00000512191.1:p.Ile126Ter | |
| ENST00000695812.1:n.993_994insTA (ACP5) | ||
| ENST00000695813.1:c.372_373insTA (ACP5) | ENSP00000512192.1:p.Ile125Ter | |
| ENST00000695814.1:c.276_277insTA (ACP5) | ENSP00000512193.1:p.Ile93Ter | |
| ENST00000695815.1:c.372_373insTA (ACP5) | ENSP00000512194.1:p.Ile125Ter | |
| ENST00000695816.1:n.803_804insTA (ACP5) | ||
| ENST00000695817.1:c.372_373insTA (ACP5) | ENSP00000512195.1:p.Ile125Ter | |
| ENST00000695818.1:c.262-142_262-141insTA (ACP5) | ENSP00000512196.1:n.262-142_262-141insTA | |
| ENST00000695819.1:n.880_881insTA (ACP5) | ||
| ENST00000695820.1:c.311+64_311+65insTA (ACP5) | ENSP00000512198.1:n.311+64_311+65insTA | |
| ENST00000695821.1:c.311+64_311+65insTA (ACP5) | ENSP00000512199.1:n.311+64_311+65insTA | |
| ENST00000695838.1:n.2224_2225insTA (ACP5) | ||
| ENST00000648477.1:c.375_376insTA (ACP5) MANE Select | ENSP00000496973.1:p.Ile126Ter | |
| ENST00000218758.9:c.375_376insTA (ACP5) | ENSP00000218758.4:p.Ile126Ter | |
| ENST00000412435.6:c.375_376insTA (ACP5) | ENSP00000392374.1:p.Ile126Ter | |
| ENST00000433365.2:c.375_376insTA (ACP5) | ENSP00000413456.1:p.Ile126Ter | |
| ENST00000585493.5:c.-94+1376_-94+1377insTA (ZNF627) | ENSP00000464997.1:n.-94+1376_-94+1377insTA | |
| ENST00000588524.5:n.881_882insTA (ACP5) | ||
| ENST00000588625.1:n.214_215insTA (ACP5) | ||
| ENST00000590420.1:c.54+534_54+535insTA (ACP5) | ENSP00000468509.1:n.54+534_54+535insTA | |
| ENST00000592828.5:c.375_376insTA (ACP5) | ENSP00000468767.1:p.Ile126Ter | |
| ENST00000593279.5:n.519+1376_519+1377insTA (ZNF627) | ||
| NM_001111034.1:c.375_376insTA (ACP5) | NP_001104504.1:p.Ile126Ter | |
| NM_001111035.1:c.375_376insTA (ACP5) | NP_001104505.1:p.Ile126Ter | |
| NM_001111036.1:c.375_376insTA (ACP5) | NP_001104506.1:p.Ile126Ter | |
| NM_001611.3:c.375_376insTA (ACP5) | NP_001602.1:p.Ile126Ter | |
| XM_005259938.1:c.375_376insTA (ACP5) | XP_005259995.1:p.Ile126Ter | |
| XM_005259939.3:c.375_376insTA (ACP5) | XP_005259996.1:p.Ile126Ter | |
| XM_011527780.1:c.-94+1376_-94+1377insTA (ZNF627) | XP_011526082.1:n.-94+1376_-94+1377insTA | |
| XM_011528069.1:c.375_376insTA (ACP5) | XP_011526371.1:p.Ile126Ter | |
| NM_001111034.2:c.375_376insTA (ACP5) | NP_001104504.1:p.Ile126Ter | |
| NM_001111035.2:c.375_376insTA (ACP5) | NP_001104505.1:p.Ile126Ter | |
| NM_001111036.2:c.375_376insTA (ACP5) | NP_001104506.1:p.Ile126Ter | |
| NM_001322023.1:c.375_376insTA (ACP5) | NP_001308952.1:p.Ile126Ter | |
| NM_001611.5:c.375_376insTA (ACP5) MANE Select | NP_001602.1:p.Ile126Ter | |
| XM_011527780.2:c.-94+1376_-94+1377insTA (ZNF627) | XP_011526082.1:n.-94+1376_-94+1377insTA | |
| XM_011528069.2:c.375_376insTA (ACP5) | XP_011526371.1:p.Ile126Ter | |
| NM_001111034.3:c.375_376insTA (ACP5) | NP_001104504.1:p.Ile126Ter | |
| NM_001111035.3:c.375_376insTA (ACP5) | NP_001104505.1:p.Ile126Ter | |
| NM_001111036.3:c.375_376insTA (ACP5) | NP_001104506.1:p.Ile126Ter | |
| NM_001322023.2:c.375_376insTA (ACP5) | NP_001308952.1:p.Ile126Ter |